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

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

Research output: Contribution to journalArticle

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.
Original languageEnglish
Pages (from-to)e27433
JournalPLoS ONE
Volume6
DOIs
Publication statusPublished - 16 Nov 2011

Keywords

  • macular degeneration
  • late-onset
  • genetics

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    Shu, X., Luhmann, U. F. O., Aleman, T. S., Barker, S. E., Lennon, A., Tulloch, B., Chen, M., Xu, H., Jacobson, S. G., Ali, R., & Wright, A. F. (2011). Characterisation of C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration. PLoS ONE , 6, e27433. https://doi.org/10.1371/journal.pone.0027433