Literature DB >> 9922387

Lens epithelial proliferation cataract in segmental trisomy involving mouse Chromosomes 4 and 17.

R S Smith1, K R Johnson, N L Hawes, B S Harris, J P Sundberg, M T Davisson.   

Abstract

A dominant induced mutation in the mouse, tightly associated with a reciprocal chromosomal translocation between Chrs 4 and 17, causes abnormal head tossing and circling behavior (the translocation induced circling mutation, Tim). Affected mice develop an unusual anterior subcapsular cataract that appears after birth and is progressive. The most likely explanation for the phenotypic observations is that the translocation breakpoint disrupted a gene or its regulation. Although the Mos protooncogene is located close to the translocation breakpoint and transgenic mice that overexpress Mos demonstrate cataracts and circling behavior, there were no gross changes in the Mos gene or in its level of expression. The morphological changes observed in the lens resemble those seen in some human congenital cataract syndromes.

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Year:  1999        PMID: 9922387     DOI: 10.1007/s003359900952

Source DB:  PubMed          Journal:  Mamm Genome        ISSN: 0938-8990            Impact factor:   2.957


  3 in total

Review 1.  Mouse models of cataract.

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

2.  Cataracts in transgenic mice caused by a human papillomavirus type 18 E7 oncogene driven by KRT1-14.

Authors:  Shinje Ghim; A Bennett Jenson; Jason A Bubier; Kathleen A Silva; Richard S Smith; John P Sundberg
Journal:  Exp Mol Pathol       Date:  2008-08-06       Impact factor: 3.362

3.  Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure.

Authors:  B Chang; R S Smith; M Peters; O V Savinova; N L Hawes; A Zabaleta; S Nusinowitz; J E Martin; M L Davisson; C L Cepko; B L Hogan; S W John
Journal:  BMC Genet       Date:  2001-11-06       Impact factor: 2.797

  3 in total

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