Primary Identifier | MGI:3646230 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 624224 |
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; sensory perception of sound; and stereocilium maintenance. Acts upstream of or within inner ear auditory receptor cell differentiation. Located in stereocilium bundle. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness. Orthologous to human CLRN2 (clarin 2). PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit nonsyndromic progressive hearing loss with a lack of fast-graded voltage responses. [provided by MGI curators] |