| Primary Identifier | MGI:2139607 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 99526 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within several processes, including outer hair cell apoptotic process; response to auditory stimulus; and sensory perception of sound. Located in cell-cell junction. Is expressed in olfactory epithelium; submandibular gland primordium; and tooth. Human ortholog(s) of this gene implicated in progressive familial intrahepatic cholestasis. Orthologous to human USP53 (ubiquitin specific peptidase 53). PHENOTYPE: Homozygotes for an ENU-induced allele show progressive hearing loss associated with altered cochlear outer hair cell (OHC) morphology, reduced endocochlear potential, and early OHC loss followed by IHC and spiral ganglion degeneration. Heterozygotes are susceptible to noise-induced hearing loss. [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
