FB2026_03 , released September 17, 2026
Human Disease Model Report: Coffin-Siris syndrome 8
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General Information
Name
Coffin-Siris syndrome 8
FlyBase ID
FBhh0001094
Disease Ontology Term
Parent Disease
OMIM
COFFIN-SIRIS SYNDROME 8; CSS8
Overview

This report describes Coffin-Siris syndrome 8 (CSS8), which is a subtype of Coffin-Siris syndrome; CSS8 exhibits autosomal dominant inheritance. The human gene implicated in this disease is SMARCC2, which encodes a core component of SWI/SNF complexes; these complexes regulate transcription via chromatin remodeling. There is a single Drosophila gene orthologous to SMARCC2, Dmel\mor, for which classical loss-of-function alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated. Dmel\mor is also orthologous to the human gene SMARCC1.

The human SMARCC2 gene has not been introduced into flies.

Animals homozygous for loss-of-function mutations of mor die during the embryonic state. RNAi-targeted knockdown of mor in the mushroom body (a brain region associated with learning and memory) causes male flies not to reduce courtship attempts after being rejected by a female, a measure of memory formation in flies. Both short-term and long-term memory impairment are observed. Many physical and genetic interactions have been reported for Dmel\mor; see below and in the mor gene report.

[updated Jul. 2019 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: Coffin-Siris syndrome
Symptoms and phenotype

Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014; pubmed:25169447). [from MIM:135900; 2019.07.19]

(OMIM, 2013-)

Coffin-Siris syndrome is a multiple malformation syndrome characterized by intellectual disability associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014; pubmed:25169447). [from MIM:135900; 2019.07.19]

(FlyBase Curators, 2013-)
Specific Disease Summary: Coffin-Siris syndrome 8
OMIM report

[COFFIN-SIRIS SYNDROME 8; CSS8](https://omim.org/entry/618362)

Human gene(s) implicated

[SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY C, MEMBER 2; SMARCC2](https://omim.org/entry/601734)

Symptoms and phenotype
Genetics

Coffin-Siris syndrome-8 (CSS8) is caused by heterozygous mutation in the SMARCC2 gene. [from OIMI:618362 ; 2019.07.20]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
CSS8
SSRIDD
SWI/SNF-related intellectual disability disorder
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    SMARCC2; SWI/SNF related BAF chromatin remodeling complex subunit C2
    D. melanogaster ortholog (based on DIOPT)
    Dmel\mor
    (DIOPT, 2013-)
    Comments on ortholog(s)

    Many to one: 2 human to 1 Drosophila.

    Human gene (HGNC)
    Symbol / Name
    SMARCC1; SWI/SNF related BAF chromatin remodeling complex subunit C1
    D. melanogaster ortholog (based on DIOPT)
    Dmel\mor
    (DIOPT, 2013-)
    Comments on ortholog(s)

    Many to one: 2 human to 1 Drosophila.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Dmel\mor
      Gene Snapshot
      moira (mor) encodes a member of the trithorax group of homeotic gene regulators. The product of mor is a chromatin remodeling protein and functions as the Swi3 component of the Brahma complex. [Date last reviewed: 2018-09-20]
      Molecular function (GO)
      Cellular component (GO)
      Gene Groups / Pathways
      Comments on ortholog(s)

      High-scoring ortholog of human SMARCC2 and SMARCC1 (1 Drosophila to 2 human). Dmel\mor shares 44% identity and 58-59% similarity with the 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 (72 groups)
        mor
        protein-protein
        Interacting group
        Assay
        References
        mor
        pull down, autoradiography, two hybrid
        (Kal et al., 2000, Crosby et al., 1999)
        mor - abd-A
        bimolecular fluorescence complementation, fluorescence microscopy
        (Bischof et al., 2018)
        mor - Act5C
        far western blotting, autoradiography
        (Kal et al., 2000)
        mor - Act42A
        far western blotting, autoradiography
        (Kal et al., 2000)
        mor - asf1
        anti bait coimmunoprecipitation, western blot
        (Moshkin et al., 2002)
        mor - Bap55
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - Bap60
        ion exchange chromatography, molecular sieving, western blot, anti tag coimmunoprecipitation, Identification by mass spectrometry, protein cross-linking with a bifunctional reagent, far western blotting, autoradiography, experimental knowledge based
        (Barish et al., 2020, Mashtalir et al., 2018, Guruharsha et al., 2011, Vorobyeva et al., 2009, Kal et al., 2000)
        mor - Bap111
        far western blotting, autoradiography, protein cross-linking with a bifunctional reagent, Identification by mass spectrometry, experimental knowledge based
        (Mashtalir et al., 2018, Guruharsha et al., 2011, Kal et al., 2000)
        mor - Bap170
        ion exchange chromatography, molecular sieving, western blot, anti bait coimmunoprecipitation
        (Chalkley et al., 2008, Mohrmann et al., 2004)
        mor - Bicra
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        (Barish et al., 2020)
        mor - boca
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - Brd7-9
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        (Barish et al., 2020)
        mor - brm
        pull down, ion exchange chromatography, molecular sieving, peptide massfingerprinting, anti bait coimmunoprecipitation, Identification by mass spectrometry, anti tag western blot, western blot, autoradiography, far western blotting, protein cross-linking with a bifunctional reagent, molecular weight estimation by staining, experimental knowledge based
        (Tilly et al., 2021, Mashtalir et al., 2018, Guruharsha et al., 2011, Chalkley et al., 2008, Mohrmann et al., 2004, Kal et al., 2000, Collins et al., 1999, Crosby et al., 1999, Papoulas et al., 1998)
        mor - Cdk8
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - CG5746
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - CG8478
        two hybrid array
        (Shokri et al., 2019)
        mor - CG10077
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - CG17002
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - CG34159
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - Clk
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        (Kwok et al., 2015)
        mor - Cpsf6
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - d4
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        (Barish et al., 2020)
        mor - dsh
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - e(y)2
        anti bait coimmunoprecipitation, peptide massfingerprinting
        (Kopytova et al., 2010)
        mor - e(y)3
        anti bait coimmunoprecipitation, Identification by mass spectrometry, western blot, coimmunoprecipitation, anti tag coimmunoprecipitation, ion exchange chromatography, molecular sieving
        (Vorobyeva et al., 2009, Chalkley et al., 2008, Vorobyeva et al., 2008)
        mor - ebi
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - EcR
        anti bait coimmunoprecipitation, western blot, proximity-dependent biotin identification, Identification by mass spectrometry
        (Mazina et al., 2020)
        mor - enc
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - Gtpbp2
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - His3
        pull down, Identification by mass spectrometry, western blot
        (Regadas et al., 2021)
        mor - ix
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - Larp4B
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - MED4
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - MED6
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - MED7
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - MED8
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - MED10
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - MED11
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - MED14
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - MED15
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - MED16
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - MED17
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - MED18
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - MED20
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - MED23
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - MED27
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - MED30
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - osa
        anti bait coimmunoprecipitation, western blot, experimental knowledge based, ion exchange chromatography, molecular sieving, peptide massfingerprinting
        (Guruharsha et al., 2011, Chalkley et al., 2008, Mohrmann et al., 2004, Collins et al., 1999)
        mor - polybromo
        ion exchange chromatography, molecular sieving, western blot, anti bait coimmunoprecipitation, protein cross-linking with a bifunctional reagent, Identification by mass spectrometry
        (Mashtalir et al., 2018, Vorobyeva et al., 2009, Chalkley et al., 2008, Mohrmann et al., 2004)
        mor - Psi
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - psq
        anti bait coimmunoprecipitation, Identification by mass spectrometry, western blot
        (Chetverina et al., 2022)
        mor - Ptip
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - rictor
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        (Vinayagam et al., 2016)
        mor - S6kII
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        (Vinayagam et al., 2016)
        mor - sd
        anti bait coimmunoprecipitation, peptide massfingerprinting, anti tag coimmunoprecipitation, anti tag western blot
        (Jin et al., 2013)
        mor - sima
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        (Vinayagam et al., 2016)
        mor - snama
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - Snr1
        experimental knowledge based, anti bait coimmunoprecipitation, anti tag western blot, western blot, two hybrid, protein cross-linking with a bifunctional reagent, Identification by mass spectrometry
        (Tilly et al., 2021, Mashtalir et al., 2018, Curtis et al., 2011, Guruharsha et al., 2011)
        mor - Stat92E
        anti bait coimmunoprecipitation, western blot
        (Panov et al., 2012)
        mor - Taf1
        anti bait coimmunoprecipitation, western blot, ion exchange chromatography, molecular sieving
        (Vorobyeva et al., 2009)
        mor - Taf4
        anti bait coimmunoprecipitation, western blot
        (Vorobyeva et al., 2009)
        mor - Taf5
        anti bait coimmunoprecipitation, western blot
        (Vorobyeva et al., 2009)
        mor - Taf8
        anti bait coimmunoprecipitation, western blot
        (Vorobyeva et al., 2009)
        mor - Taf9
        anti bait coimmunoprecipitation, western blot, ion exchange chromatography, molecular sieving
        (Vorobyeva et al., 2009)
        mor - Tbp
        ion exchange chromatography, molecular sieving, western blot
        (Vorobyeva et al., 2009)
        mor - Tet
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - Trl
        anti tag coimmunoprecipitation, peptide massfingerprinting
        (Nakayama et al., 2012)
        mor - Ubx
        bimolecular fluorescence complementation, fluorescence microscopy
        (Bischof et al., 2018)
        mor - Usp10
        experimental knowledge based
        (Guruharsha et al., 2011)
        mor - yki
        anti bait coimmunoprecipitation, western blot, anti tag coimmunoprecipitation, anti tag western blot, pull down, peptide massfingerprinting
        (Srivastava et al., 2021, Oh et al., 2013)
        mor - z
        far western blotting, autoradiography, pull down
        (Kal et al., 2000)
        mor - ZAP3
        experimental knowledge based
        (Guruharsha et al., 2011)
        Alleles Reported to Model Human Disease (Disease Ontology) (3 alleles)
        mor
        Models Based on Experimental Evidence ( 2 )
        Modifiers Based on Experimental Evidence ( 1 )
        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
        Related mammalian, viral, bacterial, or synthetic transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        morGD1257
        P{GD1257}
        w1118; P{GD1257}v6969
        morKK102003
        P{KK102003}
        P{KK102003}VIE-260B
        morGL00477
        P{TRiP.GL00477}
        y1 sc* v1 sev21; P{TRiP.GL00477}attP40
        morGLV21027
        P{TRiP.GLV21027}
        y1 sc* v1 sev21; P{TRiP.GLV21027}attP2
        morHMS01267
        P{TRiP.HMS01267}
        y1 sc* v1 sev21; P{TRiP.HMS01267}attP2
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        mor6
        loss of function allele
        gamma ray
        References (6)