| Primary Identifier | MGI:1274784 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 110789 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including G-protein alpha-subunit binding activity; adenylate cyclase inhibitor activity; and myosin binding activity. Involved in several processes, including negative regulation of adenylate cyclase activity; positive regulation of bone mineralization; and self proteolysis. Acts upstream of or within several processes, including detection of mechanical stimulus involved in sensory perception of sound; inner ear receptor cell stereocilium organization; and positive regulation of cAMP/PKA signal transduction. Located in several cellular components, including periciliary membrane compartment; photoreceptor connecting cilium; and stereocilia ankle link. Part of USH2 complex and stereocilia ankle link complex. Is active in stereocilium. Is expressed in several structures, including brain; eye; neural ectoderm; reproductive system; and spinal cord. Used to study Usher syndrome type 2C. Human ortholog(s) of this gene implicated in Usher syndrome type 2C and familial febrile seizures 4. Orthologous to human ADGRV1 (adhesion G protein-coupled receptor V1). PHENOTYPE: Homozygotes for a spontaneous and a targeted mutation exhibit high sensitivity to audiogenic seizures. Targeted mutant mice lack the ankle links that connect growing stereocilia in the developing cochlear hair cells. Homozygous KO mice are deaf. Homozygosity for the c.6748Gdel deletion leads to Usher syndrome type 2C. [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
