Primary Identifier | MGI:95779 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 14686 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable G protein-coupled receptor binding activity; G-protein beta/gamma-subunit complex binding activity; and GTPase activity. Acts upstream of or within several processes, including detection of light stimulus; homeostasis of number of retina cells; and retina morphogenesis in camera-type eye. Is active in synapse. Is expressed in early conceptus; eye; and oocyte. Used to study achromatopsia and achromatopsia 4. Human ortholog(s) of this gene implicated in achromatopsia 4 and color blindness. Orthologous to human GNAT2 (G protein subunit alpha transducin 2). PHENOTYPE: Mutations in this gene result in progressive degeneration of photoreceptors and normal ERG responses. [provided by MGI curators] |