ZFIN ID: ZDB-GENE-010426-1
Gene Name: dystrophin
Gene Symbol: dmd    Nomenclature History

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Previous Names: cb664 (1), Dp71 (1), Duchenne muscular dystrophy (1), im:6911785, sap, sapje-like (1), sapje, zfDYS (1), zgc:110165

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 1 Mapping Details/Browsers
Description: Predicted to have actin binding activity and zinc ion binding activity. Involved in several processes, including sarcomere organization; skeletal muscle organ development; and somatic muscle development. Localizes to the sarcolemma. Used to study Duchenne muscular dystrophy and muscular dystrophy. Human ortholog(s) of this gene implicated in cognitive disorder; dilated cardiomyopathy (multiple); intellectual disability; and muscular dystrophy (multiple). Is expressed in several structures, including axial mesoderm; axis; chordo neural hinge; musculature system; and somite. Orthologous to human DMD (dystrophin).
Genome Resources: Alliance (1),  Gene:83773 (1),  Ensembl(GRCz11):ENSDARG00000008487 (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
cl100 Point Mutation Donor Splice Site of Exon 62 Splice Site ENU
ct90aGt Transgenic Insertion Intron 4 Unknown DNA
pc1 Point Mutation Exon 21 Premature Stop ENU
pc2 Point Mutation Exon 32 Premature Stop ENU
sa239 Point Mutation Unknown Premature Stop ENU
sa8798 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa11033 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa12459 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa13095 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa16997 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa18688 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa19438 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa19439 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa19440 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa19441 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa25536 Point Mutation Unknown Premature Stop ENU
    sa25537 Point Mutation Unknown Splice Site ENU
    sa31194 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa32606 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa32607 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa32608 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • sa32609 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa32610 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa38248 Point Mutation Unknown Unknown ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa39558 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa39559 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • ta222a Point Mutation Exon 4 Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • tj7 Unknown Unknown Unknown ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • tm90c Point Mutation Exon 53 Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • zko234a Insertion Unknown Unknown CRISPR
  • China Zebrafish Resource Center (CZRC) (order this)
  • zko234b Indel Unknown Unknown CRISPR
  • China Zebrafish Resource Center (CZRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    CRISPR1-dmd
    1
    MO1-dmd N/A 6
    MO2-dmd N/A 3
    MO3-dmd N/A 1
    MO4-dmd N/A 1
    MO5-dmd N/A 1
    MO6-dmd N/A 3
    MO7-dmd N/A 1
    PHENOTYPE
    Data: 62 figures from 30 publications
    Observed in:
    DISEASE ASSOCIATED WITH dmd HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Becker muscular dystrophy Alliance Becker muscular dystrophy 300376
    Duchenne muscular dystrophy Alliance Duchenne muscular dystrophy 310200
    X-linked dilated cardiomyopathy Alliance Cardiomyopathy, dilated, 3B 302045
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process muscle attachment (more)
    Cellular Component sarcolemma (more)
    Molecular Function actin binding (more)
    GO Terms (all 21)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Domain IPR000433 Zinc finger, ZZ-type
    Domain IPR001202 WW domain
    Conserved_site IPR001589 Actinin-type actin-binding domain, conserved site
    Domain IPR001715 Calponin homology domain
    Repeat IPR002017 Spectrin repeat
    Homologous_superfamily IPR011992 EF-hand domain pair
    Domain IPR015153 EF-hand domain, type 1
    Domain IPR015154 EF-hand domain, type 2
    Repeat IPR018159 Spectrin/alpha-actinin
    Family IPR035436 Dystrophin/utrophin
    Homologous_superfamily IPR036020 WW domain superfamily
    Homologous_superfamily IPR036872 CH domain superfamily
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA dmd-201 (1)    Ensembl 3488
    dmd-202 (1)    Ensembl 2163
    dmd-203 (1)    Ensembl 11030
    dmd-205 (1)    Ensembl 1196
    dmd-209 (1)    Ensembl 722
    dmd-211 (1)    Ensembl 579
    ncRNA dmd-005 (1)    Ensembl 696
    dmd-006 (1)    Ensembl 708
    dmd-007 (1)    Ensembl 676
    dmd-008 (1)    Ensembl 780
    dmd-009 (1)    Ensembl 530
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab3-dmd polyclonal Rabbit WB 3
    Ab4-dmd polyclonal Rabbit IHC, WB 2
    Ab1-dmd monoclonal IgG1 Mouse IHC, WB Sigma-Aldrich
    Developmental Studies Hybridoma Bank
    36
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM dmd No data available
    MARKER RELATIONSHIPS
    dmd Contained in: [BAC] CH211-59A4 (1), CH211-274B7 (1), DKEY-9K8 (1) (order this)
    dmd Encodes: [EST] cb664 (1) (order this), IMAGE:6911785 (1)
    [cDNA] MGC:110165
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_131785 (1) 2137 bp
    Genomic GenBank:BX004756 (1) 169530 bp
    Select Tool
    Polypeptide UniProtKB:F1R0H8 (1) 3633 aa
    Sequence Information (all 54)
    ORTHOLOGY for dmd ( Chr: 1 )
    CITATIONS (107)