Literature DB >> 8034315

Mapping of six dominant cataract genes in the mouse.

C A Everett1, P H Glenister, D M Taylor, M F Lyon, J Kratochvilova-Loester, J Favor.   

Abstract

The mapping of six mouse autosomal dominant cataract mutations that were induced by mutagenic treatment with radiation or ethylnitrosourea is described. Three, with differing phenotypes, mapped on Chromosome 1 between the loci of fuzzy (fz) and leaden (ln) and close to the locus of the gamma-crystallin gene cluster. One of these, Cat-2t, had previously been shown to be a member of a group of five allelic mutants. In addition, the previously known mutant eye lens obsolescence, Elo, maps to the same point. There are thus now eight mutants that map to this point and that may involve mutations in one of the gamma-crystallin genes. In addition, one of these mutants may be a homologue of Coppock cataract in man, which also maps close to the gamma-crystallin locus. Of the three remaining mutants, one, with the suggested symbol Cat-5, mapped to the proximal region of Chromosome 10, 23.4 +/- 4.0 cM from downless (dl), a region with homology to human 6q. A second mutant, provisionally designated Opj, mapped on Chromosome 16, 8.2 +/- 3.9 cM from the marker mahoganoid (md). Thus, it possibly has a homologue on human 22q, a region in which one of the beta-crystallin loci is sited. A third mutant, provisionally designated Npp, mapped to Chromosome 5, 1.3 +/- 0.9 cM from the locus of W, and thus probably has a homologue on human Chromosome 4.

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Year:  1994        PMID: 8034315     DOI: 10.1006/geno.1994.1197

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  9 in total

1.  Endogenous retroviral insertion in Cryge in the mouse No3 cataract mutant.

Authors:  Nabanita Nag; Katherine Peterson; Keith Wyatt; Sonja Hess; Sugata Ray; Jack Favor; Debora Bogani; Mary Lyon; Graeme Wistow
Journal:  Genomics       Date:  2007-01-12       Impact factor: 5.736

2.  Reduced levels of gamma-crystallin transcripts during embryonic development of murine Cat2nop mutant lenses.

Authors:  S T Santhiya; S M Abd-alla; J Löster; J Graw
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1995-12       Impact factor: 3.117

3.  Inhibition of unfolding and aggregation of lens protein human gamma D crystallin by sodium citrate.

Authors:  Daniel R Goulet; Kelly M Knee; Jonathan A King
Journal:  Exp Eye Res       Date:  2011-05-12       Impact factor: 3.467

4.  Mapping of new recessive cataract gene (lr2) in the mouse.

Authors:  C W Song; M Okumoto; N Mori; J S Kim; S S Han; K Esaki
Journal:  Mamm Genome       Date:  1997-12       Impact factor: 2.957

Review 5.  Mouse models of cataract.

Authors:  Jochen Graw
Journal:  J Genet       Date:  2009-12       Impact factor: 1.166

6.  The human W42R γD-crystallin mutant structure provides a link between congenital and age-related cataracts.

Authors:  Fangling Ji; Jinwon Jung; Leonardus M I Koharudin; Angela M Gronenborn
Journal:  J Biol Chem       Date:  2012-11-02       Impact factor: 5.157

7.  Non-contact measurement of linear external dimensions of the mouse eye.

Authors:  Jeffrey Wisard; Micah A Chrenek; Charles Wright; Nupur Dalal; Machelle T Pardue; Jeffrey H Boatright; John M Nickerson
Journal:  J Neurosci Methods       Date:  2010-01-11       Impact factor: 2.390

8.  Sox1 directly regulates the gamma-crystallin genes and is essential for lens development in mice.

Authors:  S Nishiguchi; H Wood; H Kondoh; R Lovell-Badge; V Episkopou
Journal:  Genes Dev       Date:  1998-03-15       Impact factor: 11.361

9.  Hydrophobic core mutations associated with cataract development in mice destabilize human gammaD-crystallin.

Authors:  Kate L Moreau; Jonathan King
Journal:  J Biol Chem       Date:  2009-09-16       Impact factor: 5.157

  9 in total

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