Literature DB >> 8812411

Two new cataract loci, Ccw and To3, and further mapping of the Npp and Opj cataracts in the mouse.

S Kerscher1, P H Glenister, J Favor, M F Lyon.   

Abstract

Many types of inherited early onset cataract are known in both human and mouse. Here we describe the mapping of two novel dominant cataract loci in the mouse genome. Cataract and curly whiskers, Ccw, maps to Chromosome 4, 3.1 +/- 1.1 cM distal to the b (brown) locus. Total opacity 3, To3, maps to Chromosome 7, 7.1 +/- 1.8 cM proximal to p (pink-eyed dilution). The map positions of two other dominant cataract mutants have now been refined by three-point crosses. Nuclear and posterior polar cataract, Npp, maps to the central part of Chromosome 5, 1.4 +/- 0.5 cM distal to We (dominant spotting-extreme, an allele at the Kit locus), and Opaque secondary fiber cell junctions, Opj, maps to the proximal region of Chromosome 16, 9.1 +/- 1.5 cM distal to the marker md (mahoganoid). While there are no obvious candidate genes in the vicinity of the Ccw, Npp, and Opj mutations, To3 lies remarkably close to the recently mapped Lim2 locus, which encodes lens intrinsic membrane protein 2, also called MP19.

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Year:  1996        PMID: 8812411     DOI: 10.1006/geno.1996.0420

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


  3 in total

1.  The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation.

Authors:  Tamio Suzuki; Naoki Oiso; Rashi Gautam; Edward K Novak; Jean-Jacques Panthier; P G Suprabha; Thomas Vida; Richard T Swank; Richard A Spritz
Journal:  Proc Natl Acad Sci U S A       Date:  2003-01-21       Impact factor: 11.205

Review 2.  Mouse models of cataract.

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

3.  A missense mutation in LIM2 causes autosomal recessive congenital cataract.

Authors:  Surya Prakash G Ponnam; Kekunnaya Ramesha; Sushma Tejwani; Jyoti Matalia; Chitra Kannabiran
Journal:  Mol Vis       Date:  2008-06-23       Impact factor: 2.367

  3 in total

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