| Primary Identifier | MGI:3608325 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 100503041 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables identical protein binding activity. Acts upstream of or within several processes, including auditory receptor cell stereocilium organization; detection of mechanical stimulus involved in sensory perception of sound; and establishment of protein localization. Located in stereocilia ankle link and stereocilium. Part of USH2 complex and stereocilia ankle link complex. Human ortholog(s) of this gene implicated in Usher syndrome type 2A; Usher syndrome type 2C; and autosomal recessive nonsyndromic deafness 57. Orthologous to human PDZD7 (PDZ domain containing 7). PHENOTYPE: Mice homozygous for a knock-out allele exhibit profound deafness due to abnormal outer cochlear hair cell morphology and function. [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
