title: Fine localization of a new cataract locus, Kec, on mouse chromosome 14 and exclusion of candidate genes as the gene that causes cataract in the Kec mouse.
abstract: A mouse with cataract, Kec, was generated from N-ethyl-N-nitrosourea (ENU) mutagenesis. Cataract in the Kec mouse was observable at about 5 weeks after birth and this gradually progressed to become completely opaque by 12 weeks. Dissection microscopy revealed that vacuoles with a radial or irregular shape were located primarily in the cortex of the posterior and equatorial regions of the lens. At the late stage, the lens structure was distorted, but not ruptured. This cataract phenotype was inherited in an autosomal recessive manner. We performed a genetic linkage analysis using 133 mutant and 67 normal mice produced by mating Kec mutant (BALB/c) and F1 (C57BL/6 x Kec) mice. The Kec locus was mapped to the 3 cM region encompassed by D14Mit34 and D14Mit69. In addition we excluded coding sequences of 9 genes including Rcbtb2, P2ry5, Itm2b, Med4, Nudt15, Esd, Lcp1, Slc25a30, and 2810032E02Rik as the candidate gene that causes cataract in the Kec mouse.
authors.affiliation: Research Institute of Molecular Genetics, Department of Biomedical Sciences, The Catholic University of Korea, Seoul, Korea.
authors.forename: Minji
authors.initials: M
authors.lastname: Kang
authors.forename: Jae-Woo
authors.initials: JW
authors.lastname: Cho
authors.forename: Jeong Ki
authors.initials: JK
authors.lastname: Kim
authors.forename: Eunmin
authors.initials: E
authors.lastname: Kim
authors.forename: Jae-Young
authors.initials: JY
authors.lastname: Kim
authors.forename: Kyu-Hyuk
authors.initials: KH
authors.lastname: Cho
authors.forename: Chang-Woo
authors.initials: CW
authors.lastname: Song
authors.forename: Sungjoo Kim
authors.initials: SK
authors.lastname: Yoon
mesh_terms: D000818:Animals; D002386:Cataract / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D033481:Chromosomes, Mammalian; D004252:DNA Mutational Analysis; D005808:Genes, Recessive; D008040:Genetic Linkage; D007908:Lens, Crystalline / Q000473:pathology; D051379:Mice; D008807:Mice, Inbred BALB C; D008817:Mice, Mutant Strains; D010641:Phenotype; D012333:RNA, Messenger / Q000378:metabolism
chemical_list: D012333:RNA, Messenger