| Primary Identifier | MGI:2388124 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 229320 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within auditory receptor cell stereocilium organization; neuromuscular process controlling balance; and sensory perception of sound. Located in several cellular components, including basal part of cell; stereocilium; and trans-Golgi network transport vesicle. Is expressed in gut; male reproductive gland or organ; nervous system; sensory organ; and skin. Used to study Usher syndrome type 3 and Usher syndrome type 3A. Human ortholog(s) of this gene implicated in Usher syndrome type 3A and retinitis pigmentosa 61. Orthologous to human CLRN1 (clarin 1). PHENOTYPE: Mice homozygous for a null allele exhibit progressive hearing loss and loss of balance associated with defects in outer hair cells and supporting cells. [provided by MGI curators] |