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

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...

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Veröffentlicht in:	PloS one 2011-11, Vol.6 (11), p.e27433
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Age of Onset Amino Acid Substitution Animals Base Sequence Choroidal Neovascularization - etiology Choroidal Neovascularization - genetics Choroidal Neovascularization - pathology Choroidal Neovascularization - physiopathology Collagen - genetics Disease Models, Animal Electroretinography Embryo cells Embryonic stem cells Embryonic Stem Cells - metabolism Female Fluorescence Gene Knock-In Techniques Genetic aspects HeLa Cells Homologous Recombination Homology Humans Immunology Kinases Lasers - adverse effects Light Coagulation - adverse effects Macular degeneration Macular Degeneration - genetics Macular Degeneration - pathology Macular Degeneration - physiopathology Male Medicine Mice Mutation Phenotype Physiological aspects Retina Retina - metabolism Retina - pathology Retina - physiopathology Site-directed mutagenesis Stem cell transplantation Stem cells Xenopus laevis
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