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PMID: 9922387 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S.

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

Smith RS, Johnson KR, Hawes NL, Harris BS, Sundberg JP, Davisson MT

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.

MeSH Terms
Animals Animals, Newborn Blotting, Northern Blotting, Southern Cataract/genetics Cell Division Chromosome Aberrations Chromosome Disorders Chromosomes/genetics DNA/analysis,genetics Epithelial Cells/cytology Female Lens, Crystalline/metabolism,pathology Male Mice Mice, Inbred C3H Mice, Inbred C57BL Mice, Inbred DBA Trisomy
Chemicals
DNA
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Smith R S
The Jackson Laboratory, Box 261, 600 Main St., Bar Harbor, Maine 04609, USA.
Johnson K R
Hawes N L
Harris B S
Sundberg J P
Davisson M T
Article Info
Journal
Mammalian genome : official journal of the International Mammalian Genome Society
Abbr.
Mamm Genome
ISSN
0938-8990
Published
1999-02-00
Pages
102-6
Language
English
Region
United States
NLM ID
9100916
Subset
IM
Grants
NCI NIH HHS · CA 34196 · United States
NEI NIH HHS · R01 EY07758 · United States
NCRR NIH HHS · RRO1183 · United States
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