Characterisation of a C1qtnf5 Ser163Arg Knock-In Mouse Model of Late-Onset Retinal Macular Degeneration

X.H. Shu, U.F.O. Luhmann, T.S. Aleman, S.E. Barker, Alan Lennon, B. Tulloch, Mei Chen, Heping Xu, S.G. Jacobson, Aziza Suliman Ali, Andrew Wright

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)
166 Downloads (Pure)

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
Original languageEnglish
Article numbere27433
Number of pages1
JournalPLoS ONE
Volume6
Issue number11
DOIs
Publication statusPublished - 16 Nov 2011

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

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