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.
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.
Kang
Minji
M
Research Institute of Molecular Genetics, Department of Biomedical Sciences, The Catholic University of Korea, Seoul, Korea.
Cho
Jae-Woo
JW
Kim
Jeong Ki
JK
Kim
Eunmin
E
Kim
Jae-Young
JY
Cho
Kyu-Hyuk
KH
Song
Chang-Woo
CW
Yoon
Sungjoo Kim
SK
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
D012333:RNA, Messenger