| Primary Identifier | MGI:2153816 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 140476 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in auditory receptor cell stereocilium organization. Acts upstream of or within detection of mechanical stimulus involved in sensory perception of sound; inner ear receptor cell stereocilium organization; and protein localization. Located in kinocilium and stereocilium tip. Is expressed in cochlea; inner ear; semicircular duct ampulla; tectorial membrane; and utricle epithelium. Used to study autosomal recessive nonsyndromic deafness 16. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 16 and sensorineural hearing loss. Orthologous to several human genes including STRC (stereocilin). PHENOTYPE: Mice homozygous for a null allele exhibit progressive hearing loss from P15 with abnormal cochlear outer hair cell stereociliary bundle morphology. [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
