Primary Identifier | MGI:1353562 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 30952 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables intracellular cGMP-activated cation channel activity. Acts upstream of or within monoatomic cation transmembrane transport. Located in photoreceptor outer segment. Is expressed in retina. Used to study achromatopsia 3. Human ortholog(s) of this gene implicated in achromatopsia 3 and color blindness. Orthologous to human CNGB3 (cyclic nucleotide gated channel subunit beta 3). PHENOTYPE: Mice homozygous for a knock-out allele exhibit cone degeneration and decreased photopic response. [provided by MGI curators] |