Primary Identifier | MGI:1100886 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 19126 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable actinin binding activity; cadherin binding activity; and cholesterol binding activity. Involved in camera-type eye photoreceptor cell differentiation and retina layer formation. Located in several cellular components, including brush border; photoreceptor outer segment; and prominosome. Is expressed in several structures, including brain; eye; genitourinary system; intestine; and neural ectoderm. Used to study retinitis pigmentosa 41. Human ortholog(s) of this gene implicated in cone-rod dystrophy 12; retinal macular dystrophy 2; and retinitis pigmentosa 41. Orthologous to human PROM1 (prominin 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal retina morphology, vasculature, and electrophysiology. [provided by MGI curators] |