Primary Identifier | MGI:109575 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 21683 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) An extracellular matrix structural constituent. Acts upstream of or within auditory receptor cell stereocilium organization. Located in extracellular matrix. Is expressed in inner ear. Used to study autosomal dominant nonsyndromic deafness 12. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 12; autosomal recessive nonsyndromic deafness 21; and sensorineural hearing loss. Orthologous to human TECTA (tectorin alpha). PHENOTYPE: Homozygous null mice exhibit a tectorial membrane that is detached from the cochlear epithelium. Though the basilar membranes of mutant mice are tuned, sensitivity is attenuated. Mice with an Y1870C mutation have a disrupted tectorial membrane, elevated neural thresholds and broadened neural tuning. [provided by MGI curators] |