| Primary Identifier | MGI:1917912 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 224796 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable chloride channel activity. Involved in inner ear receptor cell stereocilium organization and protein localization. Acts upstream of or within several processes, including auditory receptor cell stereocilium organization; diet induced thermogenesis; and sensory perception of sound. Located in stereocilium base. Is expressed in several structures, including gut; inner ear; lung; male reproductive gland or organ; and metanephros. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 103. Orthologous to human CLIC5 (chloride intracellular channel 5). PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit head bobbing and circling behavior and complete deafness by 7-8 months of age caused by dysmorphic stereocilia and progressive hair cell degeneration. Mice are resistant to diet-induced obesity and are unable to maintain energy reserves. Cataracts develop with age. Renal glomerulus defects are present. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
