Primary Identifier | MGI:95778 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 14685 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables G-protein beta/gamma-subunit complex binding activity and GTPase activity. Acts upstream of or within several processes, including cellular response to electrical stimulus; detection of light stimulus; and eye photoreceptor cell differentiation. Located in photoreceptor connecting cilium; photoreceptor inner segment; and photoreceptor outer segment. Is expressed in brain; eye; photoreceptor layer outer segment; retina; and retina outer nuclear layer. Human ortholog(s) of this gene implicated in congenital stationary night blindness 1G; congenital stationary night blindness autosomal dominant 3; and night blindness. Orthologous to human GNAT1 (G protein subunit alpha transducin 1). PHENOTYPE: Mice homozygous for disruption of this gene display retinal degeneration with age and abnormal electrophysiology of the rods. [provided by MGI curators] |