Primary Identifier | MGI:1278313 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 12810 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable collagen binding activity. Acts upstream of or within sensory perception of sound. Located in extracellular matrix. Is expressed in central nervous system; inner ear; olfactory epithelium; and vibrissa. Used to study autosomal dominant nonsyndromic deafness 9. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 9 and autosomal recessive nonsyndromic deafness 110. Orthologous to human COCH (cochlin). PHENOTYPE: Homozygotes for a point mutation have vestibular and hearing dysfunctions that worsen with age. Homozyogtes for a null allele have no abnormal phenotype. [provided by MGI curators] |