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Two new cataract loci, Ccw and To3, and further mapping of the Npp and Opj cataracts in the mouse.

作者信息

Kerscher S, Glenister P H, Favor J, Lyon M F

机构信息

MRC Mammalian Genetics Unit, Harwell, Oxfordshire, OX11 ORD, United Kingdom.

出版信息

Genomics. 1996 Aug 15;36(1):17-21. doi: 10.1006/geno.1996.0420.

DOI:10.1006/geno.1996.0420
PMID:8812411
Abstract

Many types of inherited early onset cataract are known in both human and mouse. Here we describe the mapping of two novel dominant cataract loci in the mouse genome. Cataract and curly whiskers, Ccw, maps to Chromosome 4, 3.1 +/- 1.1 cM distal to the b (brown) locus. Total opacity 3, To3, maps to Chromosome 7, 7.1 +/- 1.8 cM proximal to p (pink-eyed dilution). The map positions of two other dominant cataract mutants have now been refined by three-point crosses. Nuclear and posterior polar cataract, Npp, maps to the central part of Chromosome 5, 1.4 +/- 0.5 cM distal to We (dominant spotting-extreme, an allele at the Kit locus), and Opaque secondary fiber cell junctions, Opj, maps to the proximal region of Chromosome 16, 9.1 +/- 1.5 cM distal to the marker md (mahoganoid). While there are no obvious candidate genes in the vicinity of the Ccw, Npp, and Opj mutations, To3 lies remarkably close to the recently mapped Lim2 locus, which encodes lens intrinsic membrane protein 2, also called MP19.

摘要

相似文献

1
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Identification of a mutation in the MP19 gene, Lim2, in the cataractous mouse mutant To3.在白内障小鼠突变体To3中鉴定MP19基因(Lim2)的突变。
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A new locus for autosomal dominant cataract on chromosome 19: linkage analyses and screening of candidate genes.19号染色体上常染色体显性白内障的一个新基因座:连锁分析及候选基因筛查
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A 76-bp deletion in the Mip gene causes autosomal dominant cataract in Hfi mice.Mip基因中的一个76碱基对的缺失导致Hfi小鼠出现常染色体显性白内障。
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Abnormal eye development associated with Cat4a, a dominant mouse cataract mutation on chromosome 8.与Cat4a相关的异常眼睛发育,Cat4a是8号染色体上的一种显性小鼠白内障突变。
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引用本文的文献

1
Mouse models of cataract.白内障的小鼠模型。
J Genet. 2009 Dec;88(4):469-86. doi: 10.1007/s12041-009-0066-2.
2
A missense mutation in LIM2 causes autosomal recessive congenital cataract.LIM2基因的错义突变导致常染色体隐性先天性白内障。
Mol Vis. 2008 Jun 23;14:1204-8.
3
The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation.小鼠细胞器生物发生突变体buff是由Vps33a突变引起的,Vps33a是酵母vps33和果蝇康乃馨的同源物。
Proc Natl Acad Sci U S A. 2003 Feb 4;100(3):1146-50. doi: 10.1073/pnas.0237292100. Epub 2003 Jan 21.