期刊
PLOS ONE
卷 6, 期 11, 页码 -出版社
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pone.0027433
关键词
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资金
- European Commission [FP7]
- EVI GENORET [LSHG-CT-2005-512036]
- Medical Research Council (UK)
- Macula Vision Research Foundation
- RP Fighting Blindness
- TENOVUS Scotland
- Vision Research Trust
- W.H. Ross Foundation
- National Eye Research Centre
- Carnegie Trust for the Universities of Scotland
- MRC [MC_U127584475] Funding Source: UKRI
- Medical Research Council [MC_U127584475, MC_PC_U127584475] Funding Source: researchfish
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 characterised a mouse knock-in model carrying the Ser163Arg mutation in the orthologous murine C1qtnf5 gene by site-directed mutagenesis and homologous recombination into mouse embryonic stem cells. Biochemical, immunological, electron microscopic, fundus autofluorescence, electroretinography and laser photocoagulation analyses were used to characterise the mouse model. Heterozygous and homozygous knock-in mice showed no significant abnormality in any of the above measures at time points up to 2 years. This result contrasts with another C1qtnf5 Ser163Arg knock-in mouse which showed most of the features of L-ORMD but differed in genetic background and targeting construct.
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