Mapping of the autosomal dominant cataract mutation (Coc) on mouse chromosome 16. Invest Ophthalmol Vis Sci 1997 Nov;38(12):2502-7
Date
12/31/1997Pubmed ID
9375568Scopus ID
2-s2.0-0030731478 (requires institutional sign-in at Scopus site) 14 CitationsAbstract
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.
Author List
Sidjanin DJ, Grimes PA, Pretsch W, Neuhäuser-Klaus A, Favor J, Stambolian DEAuthor
Danielle Sidjanin Maier PhD Nurse Practitioner in the Medicine department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AnimalsCataract
Chromosome Mapping
Chromosomes
Female
Lens, Crystalline
Male
Mice
Mice, Inbred C3H
Mice, Inbred C57BL
Microsatellite Repeats
Mutation
Phenotype
Radiation Injuries, Experimental
