| Primary Identifier | MGI:1861630 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 56226 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable SH3 domain binding activity and actin filament binding activity. Involved in negative regulation of cytoskeleton organization. Acts upstream of or within locomotory behavior; parallel actin filament bundle assembly; and positive regulation of filopodium assembly. Located in actin cytoskeleton; brush border; and stereocilium. Is active in stereocilium tip. Is expressed in organ of Corti; ovary; seminiferous tubule; seminiferous tubule epithelium; and testis. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 36. Orthologous to human ESPN (espin). PHENOTYPE: Homozygotes for a spontaneous mutation exhibit short and thin cochlear hair cell stereocilia, progressive degeneration of cochlear and vestibular hair cells, severe deafness, vestibular dysfunction, and poor mothering ability. Homozygotes lacking the long isoform show loss of staircase organization in extrastriolar vestibular hair bundles and thin vestibular stereocilia but no vestibular or hearing deficits. [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
