| Primary Identifier | MGI:1346332 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 24115 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ligand-gated channel activity. Involved in gamma-aminobutyric acid secretion, neurotransmission; glutamate secretion; and regulation of synaptic plasticity. Acts upstream of or within detection of light stimulus involved in visual perception and regulation of calcium ion transport. Located in membrane microdomain. Is expressed in choroid plexus; neocortex; and telencephalon meninges. Used to study bestrophinopathy and vitelliform macular dystrophy. Human ortholog(s) of this gene implicated in autosomal dominant vitreoretinochoroidopathy; bestrophinopathy; macular degeneration; retinitis pigmentosa 50; and vitelliform macular dystrophy. Orthologous to human BEST1 (bestrophin 1). PHENOTYPE: Homozygous null mutations of this gene generally result in abnormal retinal pigment epithelium morphology and/or altered eye electrophysiology. Homozygotes for a null allele show male subfertility associated with abnormal sperm morphology and reduced motility in the absence of retinal pathology. [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
