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

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.