| Primary Identifier | MGI:2183924 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 667663 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) 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). 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] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
