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

Shu, X; Luhmann, UF; Aleman, TS; Barker, SE; Lennon, A; Tulloch, B; Chen, M; ... Wright, AF; + view all (2011) Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration. PLOS One , 6 (11) , Article e27433. 10.1371/journal.pone.0027433. Green open access

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Abstract

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.

Type: Article
Title: Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration.
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1371/journal.pone.0027433
Publisher version: http://dx.doi.org/10.1371/journal.pone.0027433
Language: English
Additional information: © 2011 Shu et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. This work was supported by The European Commission (FP7), Integrated project “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, and Carnegie Trust for the Universities of Scotland. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
Keywords: Age of Onset, Amino Acid Substitution, Animals, Base Sequence, Choroidal Neovascularization, Collagen, Disease Models, Animal, Embryonic Stem Cells, Female, Gene Knock-In Techniques, HeLa Cells, Homologous Recombination, Humans, Lasers, Light Coagulation, Macular Degeneration, Male, Mice, Phenotype, Retina
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/1332686
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