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

doi:10.1371/journal.pone.0027433

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

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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

Original language	English
Article number	e27433
Number of pages	1
Journal	PLoS ONE
Volume	6
Issue number	11
DOIs	https://doi.org/10.1371/journal.pone.0027433
Publication status	Published - 16 Nov 2011

ASJC Scopus subject areas

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

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Characterisation of a C1qtnf5 Ser163Arg Knock-In Mouse Model of Late-Onset Retinal Macular DegenerationFinal published version, 1.46 MB

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title = "Characterisation of a C1qtnf5 Ser163Arg Knock-In Mouse Model of Late-Onset Retinal Macular Degeneration",

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",

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

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AU - Shu, X.H.

AU - Luhmann, U.F.O.

AU - Aleman, T.S.

AU - Barker, S.E.

AU - Lennon, Alan

AU - Tulloch, B.

AU - Chen, Mei

AU - Xu, Heping

AU - Jacobson, S.G.

AU - Ali, Aziza Suliman

AU - Wright, Andrew

PY - 2011/11/16

Y1 - 2011/11/16

N2 - 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

AB - 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

U2 - 10.1371/journal.pone.0027433

DO - 10.1371/journal.pone.0027433

M3 - Article

VL - 6

JO - PLoS One

JF - PLoS One

SN - 1932-6203

IS - 11

M1 - e27433

ER -

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

Abstract

ASJC Scopus subject areas

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