FB2025_01 , released February 20, 2025
Allele: Dmel\Fmr1R140Q.UAS
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General Information
Symbol
Dmel\Fmr1R140Q.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0303650
Feature type
allele
Associated gene
Dmel\Fmr1
Associated Insertion(s)
Carried in Construct
P{UAS-Frm1.R140Q}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Myrick et al., 2015)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Myrick et al., 2015)
Mutagen
in vitro construct
(Myrick et al., 2015)
Progenitor genotype
Carried in construct
P{UAS-Frm1.R140Q}
Cytology
Description

UAS regulatory sequences drive expression of a Fmr1 with a R140Q mutation, which is equivalent to the disease-causing R138Q mutation in humans.

(Myrick et al., 2015)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Fmr1
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:10,105,795..10,105,796 [-]
Reported amino acid change:

R140Q

Comment:

Mutation in analogous codon in human FMR1 implicated in Fragile X syndrome; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Myrick et al., 2015)
Variant Molecular Consequences
Associated Sequence Data
DDBJ / EMBL / GenBank
DNA sequence
Protein sequence
 
UniProtKB/Swiss-Prot
    UniProtKB/TrEMBL
      Expression Data
      Reporter Expression
      Additional Information
      Statement
      Reference
       
      Marker for
      Reflects expression of
      Reporter construct used in assay
      Human Disease Associations
      Disease Ontology (DO) Annotations
      Models Based on Experimental Evidence ( 1 )
      Disease
      Evidence
      References
      model of  fragile X syndrome
      CEA
      (Sears and Broadie, 2020, Myrick et al., 2015)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Myrick et al., 2015)
      FMR1:p.Arg138Gln
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 1701686
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Fails to rescue

      Scer\GAL4da.G32/Fmr1R140Q.UAS fails to rescue Fmr1unspecified

      (Myrick et al., 2015)

      Scer\GAL4elav-C155/Fmr1R140Q.UAS fails to rescue Fmr1unspecified

      (Myrick et al., 2015)
      Comments

      Ubiquitous expression of Fmr1R140Q.Scer\UAS under the control of Scer\GAL4da.G32 is unable to rescue the NMJ overgrowth and branching seen in Fmr1unspecified mutant flies.

      Pre-synaptic expression of Fmr1R140Q.Scer\UAS under the control of Scer\GAL4elav-C155 is unable to rescue the NMJ overgrowth and branching seen in Fmr1unspecified mutant flies.

      (Myrick et al., 2015)
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      Fmr1R140Q.Scer\UAS
      Fmr1R140Q.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (3)