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Article

Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration.

PloS one - 1 Jan 2011

Shu Xinhua, Luhmann Ulrich F O, Aleman Tomas S, Barker Susan E, Lennon Alan, Tulloch Brian, Chen Mei, Xu Heping, Jacobson Samuel G, Ali Robin, Wright Alan F

Abstract excerpt

A single founder mutation resulting in a Ser163Arg substitution in the C1QTNF5 gene product causes autosomal dominant late-onset retinal macular degeneration (L-ORMD) in humans, which has clinical and pathological features resembling age-related macular degeneration. We generated and characterise...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22110650
DOI: 10.1371/journal.pone.0027433
PMCID: PMC3217991

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22110650-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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