中国比较医学杂志Issue(12)：20-23,26,5.DOI:10.3969/j.issn.1671.7856.2014.012.004
LP 小鼠突变基因的定位及鉴定
Localization and identification of the mutant gene in the loop-tail mouse
张粉丽 1陈兵 2薛整风 2李怡2
作者信息
- 1. 南京师范大学生命科学学院，南京，江苏 210046
- 2. 扬州大学比较医学中心，扬州，江苏 225009
- 折叠
摘要
Abstract
Objective To define the loci of the mutant gene in the loop-tail mouse.Methods To study the heredity pattern, loop-tail mice were mated with normal C57BL/6J and C3H mice.Their offsprings with loop-tail or normal phenotype were registered respectively.Microsatellite marker D1Mit113 and D1Mit149 were used to locate the mutant gene.Based on fine mapping, the candidate gene Vangl2 was found.Vangl2 gene from the loop-tail mice was amplified by PCR followed by sequencing.Incision enzyme FspBI ( BfaI ) identified the genotype of offspring from loop-tail mice intercrossing.Results Heredity test indicated that the loop-tail phenotype was controlled by a single dominant gene not with 100%penetrance but was affected by genetic background.A C-to-T transversion was at the 1345bp in Vangl2 gene of the loop-tail mice.Conclusions The C-to-T transversion introduces a pre-termination codon of amino acids and causes the phenotype of loop-tail phenotype.None homozygous mice were found in the offsprings, suggesting that the homozygous mice are lethal.关键词
C57BL/6J小鼠/LP/Vangl2基因/无义突变Key words
C57BL/6J mice/Loop tail mouse/Vangl2 gene/Nonsense mutation分类
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张粉丽,陈兵,薛整风,李怡..LP 小鼠突变基因的定位及鉴定[J].中国比较医学杂志,2014,(12):20-23,26,5.
