Primary Identifier | MGI:2384303 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 271209 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in photoreceptor cell development and photoreceptor cell maintenance. Located in axoneme; photoreceptor connecting cilium; and photoreceptor outer segment. Is expressed in central nervous system; liver; neural retinal epithelium; retina inner nuclear layer; and retina outer nuclear layer. Human ortholog(s) of this gene implicated in occult macular dystrophy and retinitis pigmentosa 88. Orthologous to human RP1L1 (RP1 like 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit retinal photoreceptor abnormalities, including scattered outer segment disorganization, reduced electroretinogram amplitudes, and progressive retinal rod cell degeneration. [provided by MGI curators] |