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Article

A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration.

Human molecular genetics - 15 May 2011

Chavali Venkata R M, Khan Naheed W, Cukras Catherine A, Bartsch Dirk-Uwe, Jablonski Monica M, Ayyagari Radha

Abstract excerpt

Late-onset retinal macular degeneration (L-ORD) is an autosomal dominant inherited disorder caused by a single missense mutation (S163R) in the CTRP5/C1QTNF5 protein. Early phenotypic features of L-ORD include: dark adaptation abnormalities, nyctalopia, and drusen deposits in the peripheral macular region. Apart from posterior segment abnormalities, these patients also develop abnormally long anterior lens...

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Share to Gene Knock-In Techniques
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

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Identifiers

PMID: 21349921
DOI: 10.1093/hmg/ddr080
PMCID: PMC3080610

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ERG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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