Primary Identifier | MGI:102770 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 14913 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables calcium sensitive guanylate cyclase activator activity. Acts upstream of or within phototransduction; regulation of guanylate cyclase activity; and visual perception. Located in cone photoreceptor outer segment and photoreceptor inner segment. Is expressed in central nervous system; early embryo; and eye. Human ortholog(s) of this gene implicated in cone-rod dystrophy 14. Orthologous to human GUCA1A (guanylate cyclase activator 1A). PHENOTYPE: Mice heterozygous or homozygous for a knock-in allele exhibit photoreceptor degeneration and loss of cone and rod function. [provided by MGI curators] |