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K. M. Merath, L. Jackson, J. Owens, R. R. Dubielzig, B. Chang, D. J. Sidjanin; Mapping of the Lens Opacity 13 (lop13) Locus in Mice. Invest. Ophthalmol. Vis. Sci. 2007;48(13):2445.
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© ARVO (1962-2015); The Authors (2016-present)
Lens opacity 13 (lop13) is a novel congenital autosomal recessive cataract locus that arose spontaneously in the 129/sv-ter strain. The goal of this study is to identify the gene harboring the mutation responsible for the lop13 phenotype and establish mouse/human homology for the lop13 locus.
For histopathology, eyes were collected from 3 week old mice, serially sectioned and stained with H&E, trichrome, and alcian blue PAS. For genetic analysis lop13 mice were outcrossed to wild type C3A.BLiA-Pde6b+/J. The F1 mice were backcrossed to lop 13 and 96 F2 progeny were generated. At weaning the progeny were evaluated with a slit lamp following mydriasis with 1% atropine. After noting the phenotype, the progeny were euthanized and tissues were collected. Genomic DNA was isolated from collected spleens. Microsatellite markers were selected to evenly cover the mouse genome. Genotypes were determined by PCR amplification of genomic DNA and alleles were scored.
At weaning lop13 mice exhibit mature cortical nuclear cataracts and lenticonus. Histological analysis also identified an abnormal lid development with an abnormally positioned sebaceous gland deep in the dermis. Some lop13 mice exhibit eyelid fissures. Linkage analysis mapped lop13 locus to mouse chromosome 15. No recombinants were identified between microsatellite markers D15BWGO759E, D15Mit260, and the lop13 locus. The linkage map established the lop13 critical region between D15Mit28 and D15Mit33 of about 8.8 Mb. Evaluation of the mouse genome map (http://genome.ucsc.edu/cgi-bin/hgGateway) identified Hsf1 and Recql4 as candidate genes.
The lop13 mouse results from a mutation in a gene essential for the normal transparency of the lens. The linkage analysis mapped the lop13 locus to mouse chromosome 15. Evaluation of the lop13 critical region identified Hsf1 and Recql4 as candidate genes. We are currently evaluating both Hsf1 and Recql4 for mutations.
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