Version: 8.0.0
Date: Tue Jan 28 2025
Dmd
Mus musculusMGI:94909
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Dmd

Species
Mus musculus
Symbol
Dmd
Name
dystrophin, muscular dystrophy
Synonyms
  • DNADMD1
  • Dp427
Biotype
protein coding gene
Automated Description
Enables nitric-oxide synthase binding activity. Involved in several processes, including negative regulation of protein modification process; positive regulation of cell-matrix adhesion; and regulation of monoatomic cation transmembrane transport. Acts upstream of with a positive effect on cholinergic synaptic transmission. Acts upstream of or within several processes, including determination of adult lifespan; muscle cell cellular homeostasis; and nervous system development. Located in several cellular components, including Z disc; cell-substrate junction; and sarcolemma. Part of dystrophin-associated glycoprotein complex. Is active in GABA-ergic synapse and postsynaptic specialization. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genital tubercle; and musculature. Used to study Becker muscular dystrophy and Duchenne muscular dystrophy. Human ortholog(s) of this gene implicated in cognitive disorder; dilated cardiomyopathy (multiple); intellectual disability; and muscular dystrophy (multiple). Orthologous to human DMD (dystrophin).
MGI Description
PHENOTYPE: Mutations in this gene cause muscular dystrophy. Phenotypic variation has been observed in different backgrounds. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR12268
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
          Viewer Help
          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          Dmd molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            Dmd role
            Dmd genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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