Primary Identifier | MGI:2155445 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 140765 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable sodium channel regulator activity. Involved in sensory perception of sound. Located in endoplasmic reticulum and neuronal cell body. Is expressed in several structures, including alimentary system; genitourinary system; heart; inner ear; and nervous system. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 8 and sensorineural hearing loss. Orthologous to human TMPRSS3 (transmembrane serine protease 3). PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit early onset deafness and disrupted vestibular function associated with hair cell degeneration. [provided by MGI curators] |