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Investigative Ophthalmology & Visual Science, Vol 38, 2502-2507, Copyright © 1997 by Association for Research in Vision and Ophthalmology

ARTICLES AND REPORTS

Mapping of the autosomal dominant cataract mutation (Coc) on mouse chromosome 16

DJ Sidjanin, PA Grimes, W Pretsch, A Neuhauser-Klaus, J Favor and DE Stambolian
Department of Ophthalmology, University of Pennsylvania School of Medicine, Philadelphia, USA.

PURPOSE: To characterize the mouse cataract mutation Coc. METHODS: Coc is an X-radiation-induced autosomal dominant cataract mutation maintained on a murine C3H inbred strain. The affected heterozygotes were outcrossed to C57BL/6, and (C3H Coc/+ x C57BL/6) mice that were Coc/+ were then backcrossed to C57BL/6 to generate a panel of 103 progeny for mapping. For linkage analysis, microsatellites from each autosome were selected. The maximum distance between markers was 30 centimorgans (cM). RESULTS: The initial genome-wide screen of 14 backcrossed progeny indicated that the Coc locus resides on chromosome 16. Further mapping with additional markers from chromosome 16 for all 103 backcrossed progeny positioned Coc between markers D16Mit134 and D16Mit63. This region is syntenic to human chromosome 3. CONCLUSIONS: Mapping of the Coc locus to mouse chromosome 16 provides the positional information necessary to identify the candidate gene responsible for the Coc phenotype. The molecular characterization of the gene disrupted in the Coc mutation will provide insight into the mechanisms involved in cataract formation.


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P. L. Kramer, D. LaMorticella, K. Schilling, A. M. Billingslea, R. G. Weleber, and M. Litt
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