| Primary Identifier | MGI:1890219 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 22295 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable beta-catenin binding activity and cadherin binding activity. Acts upstream of or within several processes, including inner ear development; righting reflex; and sensory perception of sound. Located in several cellular components, including kinocilium; photoreceptor inner segment; and stereocilium tip. Is active in cochlear hair cell ribbon synapse and photoreceptor ribbon synapse. Is expressed in several structures, including brain; genitourinary system; hemolymphoid system gland; liver; and sensory organ. Used to study Usher syndrome type 1D and autosomal recessive nonsyndromic deafness 12. Human ortholog(s) of this gene implicated in Usher syndrome type 1D; autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness 12; and pituitary adenoma 5. Orthologous to human CDH23 (cadherin related 23). PHENOTYPE: Mutant mice exhibit circling behavior, tilting of the head and are deaf. Mice homozygous for a targeted knock-out exhibit abnormal outer hair cells morphology. [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
