| Primary Identifier | MGI:2450757 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 16470 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity. Acts upstream of or within inner ear morphogenesis; inner ear receptor cell stereocilium organization; and sensory perception of sound. Located in several cellular components, including cytoskeleton; photoreceptor connecting cilium; and photoreceptor inner segment. Is expressed in several structures, including brain; eye; hemolymphoid system gland; inner ear; and testis. Used to study Usher syndrome type 1G. Human ortholog(s) of this gene implicated in Usher syndrome type 1G. Orthologous to human USH1G (USH1 protein network component sans). PHENOTYPE: Mutant homozygotes exhibit hyperactivity, head-tossing, circling behavior and profound deafness. Structurally, mutants display disorganized stereocilia of outer ear hair cells and degeneration of inner ear neuroepithelia. [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
