| Primary Identifier | MGI:104510 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 17921 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables protein domain specific binding activity. Involved in intracellular protein localization. Acts upstream of or within several processes, including inner ear development; phagolysosome assembly; and pigment granule transport. Located in several cellular components, including melanosome; photoreceptor connecting cilium; and stereocilium base. Is active in stereocilium. Is expressed in several structures, including adrenal gland; central nervous system; genitourinary system; inner ear; and small intestine. Used to study Usher syndrome type 1 and autosomal recessive nonsyndromic deafness 2. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; Usher syndrome type 1 (multiple); auditory system disease (multiple); and congenital nystagmus. Orthologous to human MYO7A (myosin VIIA). PHENOTYPE: A number of spontaneous and ENU-induced mutations cause head-shaking, circling and deafness, often associated with cochlear hair cell degeneration and stereocilia anomalies. Defects in retinal pigment epithelial cells, male infertility, and light-inducedphotoreceptor damage have also been observed. [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
