Involved in negative regulation of guanylate cyclase activity; retina development in camera-type eye; and visual perception. Located in nucleus; photoreceptor inner segment; and photoreceptor outer segment. Is expressed in brain and sensory organ. Used to study Leber congenital amaurosis 12. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; Leber congenital amaurosis 12; and retinal degeneration. Orthologous to human RD3 (RD3 regulator of GUCY2D).
MGI Description
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit retinal degeneration, beginning at 3 weeks of age, characterized by complete loss of photoreceptor rod cells by 5 weeks, and cones by 8 weeks. [provided by MGI curators]