内源性exon 1被含有77个CAG重复的人类HD exon 1序列替换。Hdhtm1Tna中的floxed neo cassette通过体内Cre介导的生殖细胞内切去除。突变小鼠的 Western blot分析显示,扩增的polyglutamine序列蛋白在多种组织中表达。(来源:J:76017)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count