ENU诱变获得一例巨结肠症小鼠及其突变基因的染色体定位  

Generation of A Hirschsprung Disease Mouse Using ENU Mutagenesis and Chromosomal Mapping of Mutation Gene

作　　者：陈兵[1,2] 糜婷[2] 耿滕[2] 薛整风[1,2] 

机构地区：[1]扬州大学比较医学中心,江苏扬州225009 [2]扬州大学兽医学院,江苏扬州225009

出　　处：《四川动物》2013年第5期743-745,F0002,共4页Sichuan Journal of Zoology

基　　金：国家自然科学基金(No.31000987);江苏高校优势学科建设工程资助项目

摘　　要：采用化学诱变剂乙酰基亚硝基脲(N-ethyl-N-nitrosourea,ENU)获得一种可遗传的腹部白斑突变杂合子小鼠,将该杂合子小鼠互交后获得具有花斑表型的突变纯合子小鼠,进一步研究表明突变纯合子小鼠表现为严重的巨结肠表型。肠全标本乙酰胆碱酯酶组织化学染色显示突变纯合子小鼠巨结肠段神经节细胞缺失。为定位该基因,利用微卫星标记(B6×D2)对F1互交获得的F2突变纯合子小鼠进行基因组扫描,初步将该突变基因定位于小鼠第14号染色体。A heritable white spot belly mutant mouse was obtained by ENU mutagenesis.Homozygous mice with piebald spot were obtained by crossbreeding of heterozygous mice,and serious symptom of hirschsprung disease was observed in these homozygous mice by further study.AChE whole-mount staining revealed the lack of ganglia in homozygous mice.To determine the position of mutant gene on the chromosome,microsatellite markers were used to scan the whole genome of F2 mutant mice obtained by crossbreeding F1.Finally,the mutant gene was found to be located on chromosome 14.

关 键 词：乙酰基亚硝基脲 小鼠 巨结肠 乙酰胆碱酯酶组织化学 基因定位 

分 类 号：Q953[生物学—动物学]