| Primary Identifier | MGI:1341818 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 12790 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables intracellularly cyclic nucleotide-activated monoatomic cation channel activity. Acts upstream of or within retinal cone cell development. Located in cone photoreceptor outer segment and plasma membrane. Is expressed in eye; gut; and male reproductive gland or organ. Used to study Leber congenital amaurosis 2 and achromatopsia 2. Human ortholog(s) of this gene implicated in achromatopsia 2 and color blindness. Orthologous to human CNGA3 (cyclic nucleotide gated channel subunit alpha 3). PHENOTYPE: Homozygous mutant animals experience progressive loss of cone photoreceptor cells. [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
