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 7.1.0) 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 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] |