Primary Identifier | MGI:1341105 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 19888 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables microtubule binding activity. Involved in axoneme assembly; photoreceptor cell development; and photoreceptor cell maintenance. Acts upstream of or within cellular response to light stimulus; positive regulation of non-motile cilium assembly; and retina morphogenesis in camera-type eye. Located in several cellular components, including ciliary tip; photoreceptor cell cilium; and photoreceptor inner segment. Part of microtubule associated complex. Is expressed in eye; photoreceptor layer outer segment; and retina. Used to study retinitis pigmentosa 1. Human ortholog(s) of this gene implicated in retinitis pigmentosa 1. Orthologous to human RP1 (RP1 axonemal microtubule associated). PHENOTYPE: Mice homozygous for disruptions in this gene experience progressive degeneration in photoreceptors but are otherwise phenotypically normal. [provided by MGI curators] |