PMID: 11929848Apr 4, 2002Paper

Novel ENU-induced eye mutations in the mouse: models for human eye disease

Human Molecular Genetics
Caroline ThaungSally H Cross

Abstract

We have carried out a genome-wide screen for novel N-ethyl-N-nitrosourea-induced mutations that give rise to eye and vision abnormalities in the mouse and have identified 25 inherited phenotypes that affect all parts of the eye. A combination of genetic mapping, complementation and molecular analysis revealed that 14 of these are mutations in genes previously identified to play a role in eye pathophysiology, namely Pax6, Mitf, Egfr and Pde6b. Many of the others are located in genomic regions lacking candidate genes and these define new loci. Four of the mutants display a similar phenotype of dilated pupils but do not appear to be allelic, and at least two of these are embryonic lethal when homozygous. This collection of eye mutations will be valuable for understanding gene function, for dissecting protein function and as models of human eye disease.

Citations

May 22, 2007·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Peter L OliverKay E Davies
Jul 17, 2007·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Melloni N CookDan Goldowitz
Mar 7, 2012·Interdisciplinary Sciences, Computational Life Sciences·Sachin Shukla, Rajnikant Mishra
Nov 19, 2003·European Journal of Pharmacology·David A Keays, Patrick M Nolan
Jan 14, 2003·Seminars in Cell & Developmental Biology·Steve D M Brown, Rachel E Hardisty
Jul 10, 2003·Lancet Neurology·Majid HafezparastElizabeth M C Fisher
Dec 8, 2005·Visual Neuroscience·Monica M JablonskiDaniel Goldowitz
Jan 9, 2010·Nature Protocols·Rachel E Hardisty-HughesSteve D M Brown
Feb 24, 2006·European Journal of Human Genetics : EJHG·Angela Valentina D'EliaGiuseppe Damante
Aug 15, 2009·Human Molecular Genetics·Jungyeon WonPatsy M Nishina
Oct 15, 2010·Human Molecular Genetics·Sally H CrossIan J Jackson
Jul 28, 2007·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·A P F Flint, J A Woolliams
Jan 21, 2003·Genes & Development·Karen R FitchGregory S Barsh
Jul 14, 2004·Genes, Brain, and Behavior·Y BaconP M Nolan
Sep 9, 2005·Microbiology and Molecular Biology Reviews : MMBR·Sabine P Cordes
Aug 20, 2009·Annual Review of Genetics·Steve D M BrownJohn M Hancock
Oct 25, 2008·Annual Review of Genomics and Human Genetics·Abraham Acevedo-ArozenaSteve D M Brown
Oct 17, 2003·Pediatric Research·Isabel M Hanson
Dec 3, 2008·Disease Models & Mechanisms·Monica J Justice
Nov 28, 2009·The Journal of Veterinary Medical Science·Tomohiro KondoToshiya Okada
Feb 20, 2008·PLoS Genetics·Dirk A KleinjanPedro Coutinho
Aug 10, 2013·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Oliver PukJochen Graw
Jan 22, 2010·Journal of Genetics·Jochen Graw
Jun 12, 2010·Systems Biology in Reproductive Medicine·Duangporn Jamsai, Moira K O'Bryan
Jul 14, 2010·European Journal of Medical Genetics·Bingyu Huang, Weigong He
Nov 26, 2015·Experimental Eye Research·Jochen Graw
May 30, 2015·Scientific Reports·Jens BuntLinda J Richards
May 11, 2005·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Apurva K SrivastavaDavid J Baylink
Oct 21, 2004·Birth Defects Research. Part C, Embryo Today : Reviews·Jürgen E Schneider, Shoumo Bhattacharya
Feb 14, 2007·Environmental and Molecular Mutagenesis·Ivana BarbaricT Neil Dear
May 23, 2006·Clinical Genetics·A M HeverV van Heyningen
Aug 4, 2006·Brain Research·Crystal L MurciaKarl Herrup

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