CDB15:0000154 C1QTNF5 — MFRP
Experimentally validated in Mouse; Orthology-inferred in Human, Rat, Frog, Zebrafish, Chicken, Macaque, Pig, Dog, Cow, Chimp, Horse, Marmoset, Sheep
Title
Journal:; Year Published:
Abstract
174delG mutation in mouse MFRP causes photoreceptor degeneration and RPE atrophy.
Investigative ophthalmology & visual science, 2011; PubMed, Mus Musculus C1qtnf5 — Mus Musculus Mfrp
ABSTRACT: The authors have identified a recessive mutation causing progressive retinal degeneration, white fundus flecks, and eventual retinal pigment epithelium (RPE) atrophy. The goal of these studies was to characterize the retinal phenotype, to identify the causative locus, and to examine possible functions of the affected gene.