Version: 8.0.0
Date: Tue Jan 28 2025
Myo3a
Mus musculusMGI:2183924
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Myo3a

Species
Mus musculus
Symbol
Myo3a
Name
myosin IIIA
Synonyms
  • 9030416P08Rik
  • RIKEN cDNA 9030416P08 gene
Biotype
protein coding gene
Automated Description
Enables actin filament binding activity; microfilament motor activity; and protein serine/threonine kinase activity. Involved in inner ear morphogenesis; regulation of actin filament length; and sensory perception of sound. Acts upstream of or within inner ear development; positive regulation of filopodium assembly; and protein phosphorylation. Located in filopodium tip and photoreceptor inner segment. Is active in stereocilium tip. Is expressed in cochlea and metanephros. Used to study autosomal recessive nonsyndromic deafness 30. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 90 and autosomal recessive nonsyndromic deafness 30. Orthologous to human MYO3A (myosin IIIA).
MGI Description
PHENOTYPE: Mice homozygous for a nonsense mutation characteristic of human DFNB30 exhibit progressive hearing loss and cochlear hair cell degeneration. Mice homozygous for a null allele show normal hair bundle organization/structure in auditory organs, normal hearing thresholds, and no overt vestibular dysfunction. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR46256
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
    Has Phenotype 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
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          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

          Myo3a molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            Myo3a role
            Myo3a genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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