Homozygous lethality and heterozygous spotting due to a novel missense mutation in the mouse Kit gene  

作　　者：Baojin WU Lijing YIN Xiaoshu YIN Weiwei YANG Bing CHEN Zhengfeng XUE Peilin WU 

机构地区：[1]Laboratory of Experimental Animal Science, Hangzhou Normal University, Hangzhou 310036, China [2]Center for Comparative Medicine, Yangzhou University, Yangzhou, Jiangsu Province 225009, China

出　　处：《Current Zoology》2009年第6期430-434,共5页动物学报（英文版）

基　　金：supported by the National Natural Science Foundation of China(NO.30670231);Public Service Project of Lab Animal Science(NO.2008F80005);SRF for ROCS,SEM

摘　　要：N-ethyl-N-nitrosourea （ENU） mutagenesis in mice can be used to study gene function in vivo and to establish genetic mouse models of human disease. In this study, a white spotted mouse （named Kit^W-1 Bao） was obtained by ENU-induced mutagenesis. Inheritance testing showed a single-gene dominant mutation and lethality in the Kit^W-1 Bao homozygous mice. The mutation was mapped to Chromosome 5 between markers DSMit356 and DSMit308. The region contains the Kit gene, whose mutations are known to lead to pigmentation defects in mice. Sequence analysis of the Kit cDNA from Kit^W-1 Bao heterozygotes revealed an A to T missense mutation resulting in an amino acid substitution of Asp （D） by Val （V） at amino acid position 849 within a highly conserved tyrosine kinase domain. The combined phenotype displayed by the Kit^W-1 Bao heterozygous and homozygous mutant mice demonstrates the critical function of the highly conserved aspartie acid residue at position 849 in the Kit gene product

关 键 词：White spotting DEATH Mapping Identification KIT 

分 类 号：Q754[生物学—分子生物学] S828.2[农业科学—畜牧学]