| Primary Identifier | MGI:1891428 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 11994 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium ion binding activity. Acts upstream of or within several processes, including adult walking behavior; detection of mechanical stimulus involved in sensory perception; and plasma membrane bounded cell projection organization. Located in cytoplasm; photoreceptor outer segment; and plasma membrane. Is active in stereocilium. Is expressed in several structures, including central nervous system; gut epithelium; metanephros; sensory organ; and vibrissa follicle. Used to study Usher syndrome type 1F and autosomal recessive nonsyndromic deafness 23. Human ortholog(s) of this gene implicated in Usher syndrome type 1D; Usher syndrome type 1F; and autosomal recessive nonsyndromic deafness 23. Orthologous to human PCDH15 (protocadherin related 15). PHENOTYPE: Homozygotes for severe mutations exhibit circling, head-tossing, hyperactivity, impaired swimming and profound deafness. Mice have defects in cochlea and degeneration of hair cells, spiral ganglion cells and saccular macula. Females are poor mothers. [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
