FB2026_02 , released June 18, 2026
Human Disease Model Report: fragile-X-related syndromes
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General Information
Name
fragile-X-related syndromes
FlyBase ID
FBhh0000123
Disease Ontology Term
Parent Disease
OMIM
Overview

This report covers fragile X syndromes caused by mutation in the FMR1 gene. The FMR1 protein is part of an RNA-binding complex that binds to the mRNA cap and mediates translational repression. With a few exceptions, the causative genetic lesion of fragile X syndromes is a trinucleotide (CGG)n repeat expansion within the 5' UTR of the FMR1 mRNA. There is a single fly ortholog, Dmel\Fmr1 for which classical amorphic and hypomorphic alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated. Dmel\Fmr1 is also orthologous to two additional human genes, FXR1 and FXR2.

Two very different mechanisms appear to be involved in the pathological impact of different sizes of the (CGG)n repeat expansion within the 5' UTR of the FMR1 mRNA. FMR1 alleles with >200 CGG repeats undergo epigenetic silencing early in development, resulting in undetectable levels of mRNA and FMR1 protein in affected males (see the human disease model report for fragile X mental retardation syndrome, FBhh0000136; MIM:300624). Repeat expansions in an intermediate "premutation" range of 55-200 repeats are implicated in fragile X tremor/ataxia syndrome (FBhh0000137; MIM:300623) and fragile X-associated primary ovarian insufficiency (MIM:311360); in these cases FMR1 protein levels are approximately normal, but an array of late-onset progressive symptoms are observed.

Synthetic constructs containing (CGG)n or (CCG)n repeats have been introduced into flies to characterize the pathological role of RNA repeats, independent of gene context. See the report for RNA repeat diseases (FBhh0000059).

[updated Oct. 2019 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: fragile-X-related syndromes
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics

Fragile X syndromes are caused by mutation in the FMR1 gene. The vast majority of cases of fragile X mental retardation syndrome are caused by a trinucleotide (CGG)n repeat expansion of greater than 200 repeats. Fragile X tremor/ataxia syndrome is caused by expanded FMR1 (CGG)n repeats that range in size from 55 to 200 repeats and are referred to as 'premutations.' [from MIM:300624; 2016.01.15]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information

The FMR1 protein is part of an RNA-binding complex that binds to the mRNA cap and mediates translational repression; may also play a role in intracellular transport of mRNA from the nucleus to the cytoplasm. [UniProt:Q06787; 2016.01.15]

(FlyBase Curators, 2013-)

The disease-implicated CGG-repeat tract is contained within the 5-prime untranslated region (5' UTR) of the FMR1 mRNA. Different pathological mechanisms may produce the the premutation (FXTAS) syndrome (55-200 repeats) versus the 'full mutation' syndrome (>200 repeats). FMR1 alleles with >200 CGG repeats undergo epigenetic silencing during early development, resulting in undetectable levels of mRNA and FMR1 protein (Primerano et al., 2002; pubmed:12515381). In FXTAS, the levels of the FMR1 mRNA are higher than normal (Hagerman et al., 2001; pubmed:11445641). However, overexpression of the mRNA from the premutation expanded alleles is not associated with increased levels of FMR1 protein, suggesting that higher levels of the repeat-containing mRNA itself results in pathological effects (Primerano et al., 2002; pubmed:12515381). [from MIM:300624, MIM:300623, MIM:309550; 2016.01.15]

(OMIM, 2013-)
External links
Disease synonyms
fragile X syndromes
FraX
FXS
Ortholog Information
Human gene(s) in FlyBase
Human gene (HGNC)
Symbol / Name
FMR1; fragile X messenger ribonucleoprotein 1
D. melanogaster ortholog (based on DIOPT)
Dmel\Fmr1
(DIOPT, 2013-)
Comments on ortholog(s)

Many to one: 3 human to 1 Drosophila. Three human genes, FMR1, FXR1 and FXR2, are orthologous to the fly gene Dmel\Fmr1.

Other mammalian ortholog(s) used
    D. melanogaster Gene Information (1)
    Dmel\Fmr1
    Gene Snapshot
    Fmr1 (Fmr1) encodes an RNA and channel binding protein. It acts as a neural growth brake regulating RNA trafficking, RNA translation and neuronal excitability. Fmr1 loss causes Fragile X syndrome. [Date last reviewed: 2019-03-07]
    Molecular function (GO)
    Cellular component (GO)
    Gene Groups / Pathways
    Comments on ortholog(s)

    Ortholog of human gene FMR1, FXR1 and FXR2 (1 Drosophila to 3 human). Dmel\Fmr1 shares 36-38% identity and 51-53% similarity with each of the 3 human genes.

    Orthologs and Alignments from DRSC
    DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
    H. sapiens (Human)
    Other Genes Used: Viral, Bacterial, Synthetic (0)
      Summary of Physical Interactions (125 groups)
      Fmr1
      protein-protein
      Interacting group
      Assay
      References
      Fmr1
      pull down, autoradiography, anti tag coimmunoprecipitation, quantitative reverse transcription pcr, western blot, anti bait coimmunoprecipitation, primer specific pcr
      (Ryder et al., 2020, Cvetkovska et al., 2013, Ling et al., 2004, Schenck et al., 2002, Zhang et al., 2001)
      Fmr1 - Adar
      tandem affinity purification, western blot, peptide massfingerprinting, anti tag coimmunoprecipitation
      (Bhogal et al., 2011)
      Fmr1 - AGO1
      anti bait coimmunoprecipitation, western blot, anti tag coimmunoprecipitation, anti tag western blot
      (Kaul et al., 2024, Xu et al., 2008, Yang et al., 2007)
      Fmr1 - AGO2
      pull down, autoradiography, anti tag coimmunoprecipitation, anti tag western blot, western blot, peptide massfingerprinting, molecular sieving, ion exchange chromatography
      (Okamura et al., 2004, Caudy et al., 2003, Caudy et al., 2002, Ishizuka et al., 2002)
      Fmr1 - Atx2
      anti tag coimmunoprecipitation, western blot
      (Sudhakaran et al., 2014)
      Fmr1 - aub
      pull down, autoradiography, anti tag coimmunoprecipitation, anti tag western blot
      (Bozzetti et al., 2015)
      Fmr1 - bel
      anti tag coimmunoprecipitation, western blot
      (Zhou et al., 2008)
      Fmr1 - BicD
      pull down, Identification by mass spectrometry, anti bait coimmunoprecipitation, western blot, two hybrid
      (Bianco et al., 2010)
      Fmr1 - Caper
      anti bait coimmunoprecipitation, western blot
      (Titus et al., 2021)
      Fmr1 - Capr
      anti bait coimmunoprecipitation, western blot, peptide massfingerprinting
      (Papoulas et al., 2010)
      Fmr1 - caz
      anti bait coimmunoprecipitation, western blot
      (Lo Piccolo and Yamaguchi, 2017)
      Fmr1 - Cen
      anti tag coimmunoprecipitation, western blot, anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Ryder et al., 2020)
      Fmr1 - Clamp
      anti bait coimmunoprecipitation, western blot
      (Ray et al., 2023)
      Fmr1 - Cyfip
      anti bait coimmunoprecipitation, western blot, pull down, autoradiography
      (Bozzetti et al., 2015, Schenck et al., 2003)
      Fmr1 - dachs
      anti tag coimmunoprecipitation, peptide massfingerprinting
      (Kwon et al., 2013)
      Fmr1 - Dcr-1
      anti tag coimmunoprecipitation, western blot
      (Ishizuka et al., 2002)
      Fmr1 - Dhc64C
      anti tag coimmunoprecipitation, western blot
      (Ling et al., 2004)
      Fmr1 - Drep2
      anti tag coimmunoprecipitation, western blot
      (Andlauer et al., 2014)
      Fmr1 - eIF4G1
      anti bait coimmunoprecipitation, western blot, peptide massfingerprinting
      (Papoulas et al., 2010)
      Fmr1 - gig
      anti tag coimmunoprecipitation, Identification by mass spectrometry
      (Vinayagam et al., 2016)
      Fmr1 - Gld2
      anti tag coimmunoprecipitation, anti tag western blot, pull down, western blot, anti bait coimmunoprecipitation
      (Kwak et al., 2008)
      Fmr1 - glo
      anti tag coimmunoprecipitation, anti tag western blot, Identification by mass spectrometry, molecular sieving, molecular weight estimation by staining, western blot, pull down
      (Peng and Gavis, 2022, Bansal et al., 2020)
      Fmr1 - gw
      anti tag coimmunoprecipitation, anti tag western blot
      (Kaul et al., 2024)
      Fmr1 - Hecw
      anti bait coimmunoprecipitation, western blot, pull down, Identification by mass spectrometry, enzymatic study
      (Fajner et al., 2021)
      Fmr1 - Hsap\PQBP1
      pull down, western blot
      (Zhang et al., 2017)
      Fmr1 - Khc
      anti tag coimmunoprecipitation, western blot, coimmunoprecipitation
      (Ling et al., 2004)
      Fmr1 - lark
      anti bait coimmunoprecipitation, western blot
      (Sofola et al., 2008)
      Fmr1 - lig
      anti tag coimmunoprecipitation, anti tag western blot, anti bait coimmunoprecipitation, western blot, coimmunoprecipitation, peptide massfingerprinting
      (Dong et al., 2015, Kimura et al., 2015, Baumgartner et al., 2013)
      Fmr1 - me31B
      anti tag coimmunoprecipitation, western blot
      (Fajner et al., 2021)
      Fmr1 - mts
      anti bait coimmunoprecipitation, western blot
      (Wang et al., 2017)
      Fmr1 - Nab2
      anti tag coimmunoprecipitation, western blot
      (Rounds et al., 2022, Bienkowski et al., 2017)
      Fmr1 - Nufip
      anti tag coimmunoprecipitation, western blot
      (Tan et al., 2016)
      Fmr1 - orb
      anti bait coimmunoprecipitation, western blot, peptide massfingerprinting
      (Costa et al., 2005)
      Fmr1 - pAbp
      anti bait coimmunoprecipitation, western blot, Identification by mass spectrometry
      (Zhang et al., 2022)
      Fmr1 - piwi
      anti tag coimmunoprecipitation, anti tag western blot, anti bait coimmunoprecipitation, western blot, pull down
      (Jiang et al., 2016, Megosh et al., 2006)
      Fmr1 - porin
      anti bait coimmunoprecipitation, western blot
      (Geng et al., 2023)
      Fmr1 - PQBP1
      anti bait coimmunoprecipitation, western blot, pull down
      (Wan et al., 2015)
      Fmr1 - Pur-α
      anti tag coimmunoprecipitation, western blot
      (Aumiller et al., 2012)
      Fmr1 - rictor
      anti tag coimmunoprecipitation, Identification by mass spectrometry
      (Vinayagam et al., 2016)
      Fmr1 - Rm62
      anti tag coimmunoprecipitation, anti tag western blot, pull down, autoradiography, western blot, anti bait coimmunoprecipitation, Identification by mass spectrometry, peptide massfingerprinting
      (Lee et al., 2018, Ishizuka et al., 2002)
      Fmr1 - RpL5
      anti tag coimmunoprecipitation, peptide massfingerprinting, cross-linking study, anti bait coimmunoprecipitation, Identification by mass spectrometry, anti tag western blot, pull down, electron microscopy, inferred by author, autoradiography
      (Chen et al., 2014, Ishizuka et al., 2002)
      Fmr1 - RpL11
      pull down, anti tag western blot, anti tag coimmunoprecipitation, autoradiography, peptide massfingerprinting
      (Ishizuka et al., 2002)
      Fmr1 - RpL21
      anti tag coimmunoprecipitation, western blot
      (Zhou et al., 2008)
      Fmr1 - RpL22
      anti tag coimmunoprecipitation, western blot
      (Zhou et al., 2008)
      Fmr1 - RpS7
      anti tag coimmunoprecipitation, western blot
      (Zhou et al., 2008)
      Fmr1 - S6kII
      anti tag coimmunoprecipitation, Identification by mass spectrometry
      (Vinayagam et al., 2016)
      Fmr1 - sau
      pull down, western blot, anti bait coimmunoprecipitation, Identification by mass spectrometry
      (Sechi et al., 2021)
      Fmr1 - SmD1
      anti tag coimmunoprecipitation, western blot, anti tag western blot
      (Xiong et al., 2013)
      Fmr1 - TBPH
      coimmunoprecipitation, western blot
      (Coyne et al., 2015)
      Fmr1 - Tdrd3
      anti bait coimmunoprecipitation, Identification by mass spectrometry, anti tag coimmunoprecipitation, western blot, cosedimentation through density gradient, coimmunoprecipitation, anti tag western blot
      (Lee et al., 2018, Ahmad et al., 2016, Xu et al., 2013)
      Fmr1 - Top3β
      anti bait coimmunoprecipitation, western blot, anti tag coimmunoprecipitation, Identification by mass spectrometry, cosedimentation through density gradient
      (Lee et al., 2018, Ahmad et al., 2016, Xu et al., 2013)
      Fmr1 - Torsin
      anti bait coimmunoprecipitation, western blot
      (Nguyen et al., 2016)
      Fmr1 - Tudor-SN
      anti bait coimmunoprecipitation, western blot, molecular sieving, ion exchange chromatography
      (Caudy et al., 2003)
      Fmr1 - vas
      anti bait coimmunoprecipitation, western blot
      (Megosh et al., 2006)
      Fmr1 - vig
      anti tag coimmunoprecipitation, western blot, molecular sieving, ion exchange chromatography, peptide massfingerprinting, anti bait coimmunoprecipitation
      (Lee et al., 2018, Zhou et al., 2008, Caudy et al., 2003, Caudy et al., 2002)
      Fmr1 - Ythdf
      anti tag coimmunoprecipitation, Identification by mass spectrometry, pull down, molecular weight estimation by staining, anti tag western blot
      (Worpenberg et al., 2021)
      Fmr1 - Zfrp8
      anti tag coimmunoprecipitation, peptide massfingerprinting
      (Tan et al., 2016)
      Fmr1 - Zn72D
      anti tag coimmunoprecipitation, Identification by mass spectrometry, anti bait coimmunoprecipitation, anti tag western blot
      (Worringer et al., 2009)
      Fmr1 - Zrf1
      anti tag coimmunoprecipitation, anti tag western blot, western blot, Identification by mass spectrometry
      (Shun Li et al., 2025)
      RNA-protein
      Interacting group
      Assay
      References
      Fmr1
      pull down, autoradiography, anti tag coimmunoprecipitation, quantitative reverse transcription pcr, western blot, anti bait coimmunoprecipitation, primer specific pcr
      (Ryder et al., 2020, Cvetkovska et al., 2013, Ling et al., 2004, Schenck et al., 2002, Zhang et al., 2001)
      Fmr1 - 5SrRNA
      anti tag coimmunoprecipitation, northern blot, electrophoretic mobility shift assay, autoradiography
      (Ishizuka et al., 2002)
      Fmr1 - 14-3-3ζ
      anti tag coimmunoprecipitation, reverse transcription pcr
      (Li and Gavis, 2022)
      Fmr1 - αTub84B
      anti bait coimmunoprecipitation, reverse transcription pcr
      (Lee et al., 2003)
      Fmr1 - apt
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr, clip-seq
      (Buddika et al., 2021)
      Fmr1 - β'COP
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Monzo et al., 2010)
      Fmr1 - CaMKII
      anti tag coimmunoprecipitation, primer specific pcr
      (Sudhakaran et al., 2014)
      Fmr1 - CCT3
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Monzo et al., 2010)
      Fmr1 - CCT4
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Monzo et al., 2010)
      Fmr1 - CCT7
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Monzo et al., 2010)
      Fmr1 - Cen
      anti tag coimmunoprecipitation, western blot, anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Ryder et al., 2020)
      Fmr1 - chic
      anti tag coimmunoprecipitation, quantitative reverse transcription pcr, proximity labelling technology, nucleotide sequence identification, reverse transcription pcr
      (Li and Gavis, 2022, Worpenberg et al., 2021, Wang et al., 2017, Reeve et al., 2005)
      Fmr1 - Crag
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Zhang et al., 2022)
      Fmr1 - CRMP
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Zhao et al., 2021)
      Fmr1 - csw
      anti tag coimmunoprecipitation, reverse transcription pcr
      (Leahy et al., 2023)
      Fmr1 - CycB
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Liu et al., 2012)
      Fmr1 - Dscam1
      anti bait coimmunoprecipitation, primer specific pcr, full identification by DNA sequencing
      (Cvetkovska et al., 2013, Kim et al., 2013)
      Fmr1 - Egfr
      clip-seq, anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Buddika et al., 2021)
      Fmr1 - esg
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr, clip-seq
      (Buddika et al., 2021)
      Fmr1 - futsch
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr, primer specific pcr, anti tag coimmunoprecipitation, reverse transcription pcr
      (Leahy et al., 2023, Song et al., 2022, Worpenberg et al., 2021, Russo and DiAntonio, 2019, Sears et al., 2019, Vita and Broadie, 2017, Cvetkovska et al., 2013, Liu et al., 2012, Zhang et al., 2001)
      Fmr1 - gcl
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Zhang et al., 2022)
      Fmr1 - Gdh
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Zhang et al., 2022)
      Fmr1 - GlyRS
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Monzo et al., 2010)
      Fmr1 - HIP
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Zhang et al., 2022)
      Fmr1 - Hk
      anti bait coimmunoprecipitation, reverse transcription pcr
      (Lee et al., 2003)
      Fmr1 - Mad
      anti tag coimmunoprecipitation, quantitative reverse transcription pcr
      (Song and Broadie, 2023)
      Fmr1 - Mes2
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr, clip-seq
      (Buddika et al., 2021)
      Fmr1 - mir-1
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Yang et al., 2009)
      Fmr1 - mir-2a-1
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Yang et al., 2009)
      Fmr1 - mir-2a-2
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Yang et al., 2009)
      Fmr1 - mir-2b-1
      anti tag coimmunoprecipitation, northern blot
      (Ishizuka et al., 2002)
      Fmr1 - mir-2b-2
      anti tag coimmunoprecipitation, northern blot
      (Ishizuka et al., 2002)
      Fmr1 - mir-8
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Yang et al., 2009)
      Fmr1 - mir-9c
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Yang et al., 2009)
      Fmr1 - mir-11
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Yang et al., 2009)
      Fmr1 - mir-12
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Yang et al., 2009)
      Fmr1 - mir-13a
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Yang et al., 2009)
      Fmr1 - mir-79
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Yang et al., 2009)
      Fmr1 - mir-124
      anti tag coimmunoprecipitation, northern blot
      (Xu et al., 2008)
      Fmr1 - mir-125
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Yang et al., 2009)
      Fmr1 - mir-276a
      anti tag coimmunoprecipitation, reverse transcription pcr, anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Li and Gavis, 2022, Yang et al., 2009)
      Fmr1 - mir-276b
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Yang et al., 2009)
      Fmr1 - mir-277
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Yang et al., 2009)
      Fmr1 - mir-279
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Yang et al., 2009)
      Fmr1 - mir-304
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Yang et al., 2009)
      Fmr1 - mir-305
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Yang et al., 2009)
      Fmr1 - mir-306
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Yang et al., 2009)
      Fmr1 - mir-ban
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr, northern blot, anti tag coimmunoprecipitation
      (Yang et al., 2009, Okamura et al., 2004)
      Fmr1 - mir-let7
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Yang et al., 2009)
      Fmr1 - nej
      anti tag coimmunoprecipitation, reverse transcription pcr
      (Li and Gavis, 2022)
      Fmr1 - Nf1
      anti tag coimmunoprecipitation, reverse transcription pcr
      (Li and Gavis, 2022)
      Fmr1 - ninaE
      anti tag coimmunoprecipitation, quantitative reverse transcription pcr
      (Wang et al., 2017)
      Fmr1 - Nos
      anti tag coimmunoprecipitation, reverse transcription pcr
      (Peng and Gavis, 2022)
      Fmr1 - ppk
      pull down, coimmunoprecipitation, quantitative reverse transcription pcr
      (Xu et al., 2004)
      Fmr1 - Rac1
      anti bait coimmunoprecipitation, reverse transcription pcr
      (Lee et al., 2003)
      Fmr1 - RASSF8
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Zhang et al., 2022)
      Fmr1 - rg
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Sears et al., 2019)
      Fmr1 - shg
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr, clip-seq
      (Buddika et al., 2021)
      Fmr1 - shrb
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Vita and Broadie, 2017)
      Fmr1 - sif
      anti tag coimmunoprecipitation, quantitative reverse transcription pcr
      (Gundermann et al., 2025)
      Fmr1 - stau
      anti tag coimmunoprecipitation, quantitative reverse transcription pcr, reverse transcription pcr
      (Song and Broadie, 2023, Song et al., 2022)
      Fmr1 - Tet
      clip-seq, anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Buddika et al., 2021)
      Fmr1 - tral
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Monzo et al., 2010)
      Fmr1 - Unr
      clip-seq, anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Buddika et al., 2021)
      Fmr1 - wnd
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      (Russo and DiAntonio, 2019)
      RNA-RNA
      Interacting group
      Assay
      References
      Fmr1 - mir-219
      western blot, luminiscence technology
      (Wang et al., 2019)
      Fmr1 - mir-315
      fluorescence technology, luminiscence technology, necessary binding region
      (Yuan et al., 2020)
      Fmr1 - mir-960
      luminiscence technology
      (Wang et al., 2019)
      Alleles Reported to Model Human Disease (Disease Ontology) (41 alleles)
      Fmr1
      Models Based on Experimental Evidence ( 34 )
      Allele
      Disease
      Evidence
      References
      Fmr1Δ113M
      model of  fragile X syndrome
      CEA
      (Honda et al., 2024, Kashima et al., 2017, Michel et al., 2004, Zhang et al., 2001)
      CEC
      (Kashima et al., 2016)
      CEA with Fmr13
      (Kashima et al., 2017, Michel et al., 2004)
      CEA with Fmr1Δ50M
      (Starke et al., 2022, Luhur et al., 2017, Michel et al., 2004)
      CEA with Fmr1Δ83M
      (Michel et al., 2004)
      CEA with Fmr1KK107935
      (Luhur et al., 2017)
      Fmr1Δ192N
      model of  fragile X syndrome
      CEA
      (Zhang et al., 2001)
      Fmr1Δ50M
      model of  fragile X syndrome
      CEA
      (Honda et al., 2024, De Donno et al., 2023, Song and Broadie, 2023, Song et al., 2022, Golovin et al., 2021, Vita et al., 2021, Kennedy et al., 2020, Russo and DiAntonio, 2019, Sears et al., 2019, Matsumoto et al., 2018, Bienkowski et al., 2017, Dear et al., 2017, Doll et al., 2017, Kashima et al., 2017, Kennedy and Broadie, 2017, Mansilla et al., 2017, Vita and Broadie, 2017, Doll and Broadie, 2016, Doll and Broadie, 2015, Gatto et al., 2014, Friedman et al., 2013, Coffee et al., 2012, Gatto and Broadie, 2011, Siller and Broadie, 2011, Yao et al., 2011, Coffee et al., 2010, Pan et al., 2008, Michel et al., 2004, Zhang et al., 2001)
      CEC
      (Gross et al., 2015, Sterne et al., 2015)
      CEA with Fmr1Δ113M
      (Starke et al., 2022, Luhur et al., 2017, Michel et al., 2004)
      CEA with Fmr1Δ3
      (Kang et al., 2019)
      CEA with Fmr13
      (Zhao et al., 2021, Kennedy et al., 2020, Greenblatt and Spradling, 2018)
      CEA with Fmr12
      (Russo and DiAntonio, 2019)
      Fmr1Δ83M
      model of  fragile X syndrome
      CEA with Fmr13
      (Tauber et al., 2011, Michel et al., 2004)
      CEA
      (Michel et al., 2004, Zhang et al., 2001)
      CEA with Fmr1Δ113M
      (Michel et al., 2004)
      Fmr12
      model of  fragile X syndrome
      CEA
      (Kennedy et al., 2020, Kennedy and Broadie, 2017)
      CEA with Fmr1Δ50M
      (Russo and DiAntonio, 2019)
      Fmr13
      model of  fragile X syndrome
      CEA with Fmr1Δ83M
      (Tauber et al., 2011, Michel et al., 2004)
      CEA
      (Weisz et al., 2024, Andrew et al., 2021, Kennedy et al., 2020, Kashima et al., 2017, Monyak et al., 2017, Choi et al., 2015, Kanellopoulos et al., 2012, Repicky and Broadie, 2009, McBride et al., 2005, Michel et al., 2004)
      CEA with Fmr1FS
      (Choi et al., 2010)
      CEA with Fmr1Δ113M
      (Kashima et al., 2017, Michel et al., 2004)
      CEA with Fmr1Δ50M
      (Zhao et al., 2021, Kennedy et al., 2020, Greenblatt and Spradling, 2018)
      model of  autism spectrum disorder
      CEA
      (Bolduc et al., 2010)
      model of  glucose metabolism disease
      CEA
      (Tran et al., 2024)
      Fmr14.L
      model of  fragile X syndrome
      CEA
      (Jakubowski et al., 2012)
      Fmr1B55
      model of  autism spectrum disorder
      CEA
      (Bolduc et al., 2010)
      model of  fragile X syndrome
      CEA
      (Milojevic et al., 2024, Stojkovic et al., 2024, Golovin et al., 2021, Kennedy et al., 2020, Franco et al., 2017)
      Fmr1EP3422
      model of  fragile X syndrome
      CEA
      (Zhang et al., 2001)
      Fmr1EP3517
      model of  fragile X syndrome
      CEA
      (Yao et al., 2011, Michel et al., 2004, Zhang et al., 2001)
      Fmr1FS
      model of  fragile X syndrome
      CEA with Fmr13
      (Choi et al., 2010)
      CEA
      (Choi et al., 2015)
      Fmr1I307N.Z.UAS
      model of  fragile X syndrome
      CEA
      (Zhang et al., 2001)
      Fmr1UAS.cWa
      model of  fragile X syndrome
      CEA
      (Bienkowski et al., 2017)
      Fmr1UAS.cZa
      model of  malignant pleural mesothelioma
      CEA
      (Srivastava, 2015)
      model of  fragile X syndrome
      CEA
      (Starke et al., 2022, Zhang et al., 2001)
      Fmr1sev.PW
      model of  fragile X syndrome
      CEA
      (Yao et al., 2011)
      Fmr1unspecified
      model of  fragile X syndrome
      CEA
      (Zhang et al., 2017, Cvetkovska et al., 2013, Kelley et al., 2007)
      Fmr1GL00075
      model of  fragile X syndrome
      CEA
      (Song and Broadie, 2023, Song et al., 2022, Golovin et al., 2021, Vita et al., 2021, Sears et al., 2019, Greenblatt and Spradling, 2018, Kashima et al., 2017)
      Fmr1HMS00248
      model of  autism spectrum disorder
      CEA
      (Dong et al., 2016)
      model of  fragile X syndrome
      CEA
      (Greenblatt and Spradling, 2018)
      Fmr1GD1288
      model of  fragile X syndrome
      CEA
      (Kanellopoulos et al., 2012)
      Fmr1KK107935
      model of  fragile X syndrome
      CEA with Fmr1Δ113M
      (Luhur et al., 2017)
      CEA
      (Mansilla et al., 2017)
      Fmr1CB-0950-3
      model of  autism spectrum disorder
      CEA
      (Dong et al., 2016)
      Fmr15-HA-1014
      model of  autism spectrum disorder
      CEA
      (Dong et al., 2016)
      Fmr1JF02634
      model of  autism spectrum disorder
      CEA
      (Dong et al., 2016)
      model of  fragile X syndrome
      CEA
      (Sears and Broadie, 2020, Doll and Broadie, 2016, Doll and Broadie, 2015)
      Fmr1RNAi.500.UAS
      model of  fragile X syndrome
      CEA
      (Golovin et al., 2021)
      Fmr1RNAi.280.UAS
      model of  fragile X syndrome
      CEA
      (Golovin et al., 2021)
      Fmr1RNAi.UAS.cUa
      model of  fragile X syndrome
      CEA
      (Cvetkovska et al., 2013)
      Fmr1UAS.cMa
      model of  fragile X syndrome
      CEA
      (Sears and Broadie, 2020)
      Fmr1R140Q.UAS
      model of  fragile X syndrome
      CEA
      (Sears and Broadie, 2020, Myrick et al., 2015)
      Fmr1Δ3
      model of  fragile X syndrome
      CEA with Fmr1Δ50M
      (Kang et al., 2019)
      Fmr1UAS.cOa
      model of  fragile X syndrome
      CEA
      (Okray et al., 2015)
      Fmr1ΔCt.UAS
      model of  fragile X syndrome
      CEA
      (Okray et al., 2015)
      Fmr1wt+NLS.UAS
      model of  fragile X syndrome
      CEA
      (Okray et al., 2015)
      Fmr1ΔCt+NLS.UAS
      model of  fragile X syndrome
      CEA
      (Okray et al., 2015)
      Fmr1UAS.EGFP
      model of  fragile X syndrome
      CEA
      (Starke et al., 2022)
      Modifiers Based on Experimental Evidence ( 18 )
      Allele
      Disease
      Interaction
      References
      Fmr1Δ113M
      model of  fragile X syndrome
      is ameliorated by witA12
      (Kashima et al., 2017, Kashima et al., 2016)
      is ameliorated by witB11
      (Kashima et al., 2016)
      is ameliorated by Hsap\DISC1UAS.Tag:HA
      (Honda et al., 2024)
      is ameliorated by Nab2ex3
      (Bienkowski et al., 2017)
      ameliorates  autosomal recessive intellectual developmental disorder
      modeled by Nab2EP3716
      (Bienkowski et al., 2017)
      exacerbates  autosomal recessive intellectual developmental disorder
      modeled by Nab2GD11745
      (Bienkowski et al., 2017)
      modeled by Nab2ex3
      (Bienkowski et al., 2017)
      ameliorates  schizophrenia 9
      modeled by Hsap\DISC1UAS.Tag:HA
      (Honda et al., 2024)
      Fmr1Δ50M
      exacerbates  amyotrophic lateral sclerosis
      modeled by Hsap\TARDBPUAS.YFP.cEa
      (Coyne et al., 2015)
      modeled by Hsap\TARDBPG298S.UAS.YFP
      (Coyne et al., 2015)
      exacerbates  Troyer syndrome
      modeled by spartin1
      (Nahm et al., 2013)
      model of  fragile X syndrome
      is ameliorated by futschN94
      (Zhang et al., 2001)
      is ameliorated by TimpUAS.cPa
      (Siller and Broadie, 2011)
      is ameliorated by Mmp1Q112stop
      (Siller and Broadie, 2011)
      is ameliorated by mGluR112b
      (Pan et al., 2008)
      is ameliorated by Fmr1UAS.cZa
      (Doll and Broadie, 2015)
      is ameliorated by dlpA187
      (Dear et al., 2017, Friedman et al., 2013)
      is ameliorated by CenG1AEY01217
      (Gross et al., 2015)
      is ameliorated by Abl1
      (Sterne et al., 2015)
      is ameliorated by shrb4
      (Vita and Broadie, 2017)
      is ameliorated by Nab2ex3
      (Bienkowski et al., 2017)
      is ameliorated by rgFDD
      (Sears et al., 2019)
      is ameliorated by bskHMS04479
      (Russo and DiAntonio, 2019)
      is ameliorated by kayFbz.UAS
      (Russo and DiAntonio, 2019)
      is ameliorated by wnd1
      (Russo and DiAntonio, 2019)
      is ameliorated by wnd3
      (Russo and DiAntonio, 2019)
      is ameliorated by wndGL00282
      (Russo and DiAntonio, 2019)
      is exacerbated by stau1
      (Song et al., 2022)
      is ameliorated by stauUAS.GFP
      (Song et al., 2022)
      is ameliorated by CenG1AKG00800
      (Matsumoto et al., 2018)
      is ameliorated by drprI.UAS
      (Vita et al., 2021)
      is ameliorated by InRdel.UAS
      (Vita et al., 2021)
      is ameliorated by drprΔ5
      (Vita et al., 2021)
      is ameliorated by Hsap\DISC1UAS.Tag:HA
      (Honda et al., 2024)
      ameliorates  autosomal recessive intellectual developmental disorder
      modeled by Nab2EP3716
      (Bienkowski et al., 2017)
      exacerbates  autosomal recessive intellectual developmental disorder
      modeled by Nab2ex3
      (Bienkowski et al., 2017)
      ameliorates  autism spectrum disorder
      modeled by CenG1AKG00800
      (Matsumoto et al., 2018)
      ameliorates  schizophrenia 9
      modeled by Hsap\DISC1UAS.Tag:HA
      (Honda et al., 2024)
      Fmr13
      model of  fragile X syndrome
      is ameliorated by mGluRGD707
      (Kanellopoulos et al., 2012)
      is ameliorated by Pde4dnc-1
      (Kanellopoulos et al., 2012)
      is ameliorated by Pde4ML
      (Kanellopoulos et al., 2012)
      is ameliorated by Ilp21
      (Weisz et al., 2024, Monyak et al., 2017)
      is ameliorated by srlEY05931
      (Weisz et al., 2024)
      is ameliorated by srlUAS.cUa
      (Weisz et al., 2024)
      is ameliorated by mGluR112b
      (Repicky and Broadie, 2009)
      is ameliorated by InR05545
      (Monyak et al., 2017)
      is ameliorated by Hsap\PTENUAS.cHa
      (Monyak et al., 2017)
      is ameliorated by Pi3K92ED954A.UAS.Tag:MYC
      (Monyak et al., 2017)
      Fmr1EP3517
      exacerbates  tauopathy
      modeled by Hsap\MAPTV337M.UAS
      (Shulman and Feany, 2003)
      model of  fragile X syndrome
      is ameliorated by spas5.75
      (Yao et al., 2011)
      is ameliorated by spasRNAi.UAS
      (Yao et al., 2011)
      Fmr1FS
      model of  fragile X syndrome
      is ameliorated by Pde4dnc-1
      (Choi et al., 2015)
      Fmr1UAS.cWa
      model of  fragile X syndrome
      is exacerbated by Nab2EP3716
      (Bienkowski et al., 2017)
      exacerbates  autosomal recessive intellectual developmental disorder
      modeled by Nab2GD11745
      (Bienkowski et al., 2017)
      exacerbates  neurodegenerative disease
      modeled by Zzzz\GGGGCC48.UAS
      (Schweizer Burguete et al., 2015)
      Fmr1UAS.cZa
      ameliorates  fragile X syndrome
      modeled by Fmr1Δ50M
      (Doll and Broadie, 2015)
      Fmr1sev.PW
      model of  fragile X syndrome
      is ameliorated by spas5.75
      (Yao et al., 2011)
      Fmr1unspecified
      model of  fragile X syndrome
      is ameliorated by Dscam1unspecified
      (Cvetkovska et al., 2013)
      model of  Down syndrome
      is ameliorated by Dscam1unspecified
      (Cvetkovska et al., 2013)
      Fmr1GL00075
      ameliorates  autosomal recessive intellectual developmental disorder
      modeled by Nab2EP3716
      (Bienkowski et al., 2017)
      ameliorates  Huntington's disease
      modeled by Hsap\HTTQ103.ex1p.UAS.EGFP
      (Xu et al., 2019)
      modeled by Hsap\HTTN548.Q128.UAS
      (Xu et al., 2019)
      modeled by Hsap\HTTQ72.ex1p.UAS.EGFP
      (Xu et al., 2019)
      Fmr1HMS00248
      ameliorates  Huntington's disease
      modeled by Hsap\HTTQ103.ex1p.UAS.EGFP
      (Xu et al., 2019)
      modeled by Hsap\HTTN548.Q128.UAS
      (Xu et al., 2019)
      modeled by Hsap\HTTQ72.ex1p.UAS.EGFP
      (Xu et al., 2019)
      ameliorates  neurodegenerative disease
      modeled by Zzzz\GGGGCC48.UAS
      (Schweizer Burguete et al., 2015)
      Fmr1GD1288
      exacerbates  amyotrophic lateral sclerosis
      modeled by Hsap\TARDBPUAS.YFP.cEa
      (Coyne et al., 2015)
      modeled by Hsap\TARDBPG298S.UAS.YFP
      (Coyne et al., 2015)
      Fmr15-HA-1014
      model of  autism spectrum disorder
      is ameliorated by Rac1V12.UAS
      (Dong et al., 2016)
      Fmr1UAS.YFP
      ameliorates  amyotrophic lateral sclerosis
      modeled by Hsap\TARDBPUAS.YFP.cEa
      (Coyne et al., 2015)
      modeled by Hsap\TARDBPG298S.UAS.YFP
      (Coyne et al., 2015)
      Fmr1RNAi.UAS.cUa
      model of  fragile X syndrome
      is ameliorated by Dscam1unspecified
      (Cvetkovska et al., 2013)
      model of  Down syndrome
      is ameliorated by Dscam1unspecified
      (Cvetkovska et al., 2013)
      Fmr1UAS.cUa
      ameliorates  Renpenning syndrome
      modeled by Hsap\PQBP1dupAG.UAS.Tag:FLAG
      (Zhang et al., 2017)
      Fmr1KH1mut.UAS.EGFP
      exacerbates  fragile X syndrome
      modeled by Fmr1Δ113M, Fmr1Δ50M
      (Starke et al., 2022)
      Fmr1KH1KH2mut.UAS.EGFP
      exacerbates  fragile X syndrome
      modeled by Fmr1Δ113M, Fmr1Δ50M
      (Starke et al., 2022)
      Hsap\FMR1
      Models Based on Experimental Evidence ( 3 )
      Modifiers Based on Experimental Evidence ( 1 )
      Allele
      Disease
      Interaction
      References
      Hsap\FMR1UAS.cSa
      model of  fragile X syndrome
      is ameliorated by Adcy1JF02361
      (Sears and Broadie, 2020)
      Alleles Representing Disease-Implicated Variants
      Genetic Tools, Stocks and Reagents
      Sources of Stocks
      Contact lab of origin for a reagent not available from a public stock center.
      Bloomington Stock Center Disease Page
      Fragile X Syndrome
      Related mammalian, viral, bacterial, or synthetic transgenes
      Allele
      Transgene
      Publicly Available Stocks
      Hsap\FMR1ΔRGG.UAS.Tag:MYC
      P{UAS-hFMR1.DeltaRGG.MYC}
      Hsap\FMR1UAS.cSa
      P{UAS-hFMR1.S}
      Hsap\FMR1UAS.Tag:MYC
      P{UAS-FMR1.MYC}
      Hsap\FMR1S500A.UAS.Tag:MYC
      P{UAS-FMR1.S500A.MYC}
      Hsap\FMR1S500D.UAS.Tag:MYC
      P{UAS-FMR1.S500D.MYC}
      Selected Drosophila transgenes
      Allele
      Transgene
      Publicly Available Stocks
      Fmr1UAS.cOa
      PBac{UAS-Fmr1.O}
      Fmr1ΔCt.UAS
      PBac{UAS-Fmr1.DeltaCt}
      Fmr1wt+NLS.UAS
      PBac{UAS-Fmr1.wt+NLS}
      Fmr1ΔCt+NLS.UAS
      PBac{UAS-Fmr1.DeltaCt+NLS}
      Fmr1UAS.EGFP
      M{UAS-Fmr1.EGFP}
      Fmr1KH1mut.UAS.EGFP
      M{UAS-Fmr1.KH1mut.EGFP}
      Fmr1KH1KH2mut.UAS.EGFP
      M{UAS-Fmr1.KH1KH2mut.EGFP}
      Fmr1sev.PW
      P{sev-Fmr1.W}
      Fmr1UAS.cWa
      P{UAS-Fmr1.W}
      Fmr1UAS.cZa
      P{UAS-Fmr1.Z}
      w1118; P{UAS-Fmr1.Z}3
      Fmr1I307N.Z.UAS
      P{UAS-Fmr1.I307N.Z}
      Fmr1FS
      P{Fmr1.FS}
      Fmr1UAS.YFP
      P{UAS-Fmr1.YFP}
      Fmr1UAS.cMa
      P{UAS-Fmr1.M}
      Fmr1R140Q.UAS
      P{UAS-Frm1.R140Q}
      Fmr1UAS.cUa
      P{UAS-Fmr1.U}
      RNAi constructs available
      Allele
      Transgene
      Publicly Available Stocks
      Fmr1RNAi.13xlexAop.cZa
      P{13xlexAop-Fmr1.RNAi.Z}
      Fmr1GD1288
      P{GD1288}
      w1118; P{GD1288}v8933
      Fmr1RNAi.500.UAS
      P{UAS-Fmr1.RNAi.500}
      Fmr1RNAi.280.UAS
      P{UAS-Fmr1.RNAi.280}
      Fmr1JF02634
      P{TRiP.JF02634}
      y1 v1; P{TRiP.JF02634}attP2
      Fmr1GL00075
      P{TRiP.GL00075}
      y1 sc* v1 sev21; P{TRiP.GL00075}attP2
      Fmr1HMS00248
      P{TRiP.HMS00248}
      y1 sc* v1 sev21; P{TRiP.HMS00248}attP2
      Fmr1RNAi.UAS.cUa
      P{UAS-Fmr1.RNAi.U}
      Fmr1KK107935
      P{KK107935}
      P{KK107935}VIE-260B
      Selected Drosophila classical alleles
      Allele
      Allele class
      Mutagen
      Publicly Available Stocks
      Fmr1Δ3
      Fmr1EP3422
      P-element activity
      Fmr1EP3517
      P-element activity
      w1118; P{EP}EP3517 Fmr1EP3517/TM6B, Tb+
      Fmr1unspecified
      Fmr14.L
      loss of function allele
      ethyl methanesulfonate
      Fmr11
      loss of function allele
      ethyl methanesulfonate
      Fmr12
      Delta2-3 transposase
      Fmr13
      amorphic allele - genetic evidence
      Delta2-3 transposase
      Fmr1Δ83M
      amorphic allele - genetic evidence
      Delta2-3 transposase
      Fmr1Δ192N
      loss of function allele
      Delta2-3 transposase
      Fmr12.L
      loss of function allele
      ethyl methanesulfonate
      Fmr1Δ50M
      loss of function allele
      Delta2-3 transposase
      w1118; Fmr1Δ50M/TM6B, Tb1
      Fmr1Δ113M
      amorphic allele - genetic evidence
      Delta2-3 transposase
      Fmr1B55
      loss of function allele
      P-element activity
      w*; Fmr1B55
      Fmr1CB-0950-3
      Fmr15-HA-1014
      w1118; P{RS5}Fmr15-HA-1014
      References (72)