小鼠叉头框C2基因变异致室间隔缺损

Ventricular septal defect induced by mutation of mouse Fox C2 gene

目的 :探讨叉头框 C2基因在心血管发生和发育中的作用。方法 :通过敲除小鼠叉头框 C2基因 ,解析敲除叉头框 C2基因小鼠的心脏发育情况。结果 :在 98只新生鼠中仅有 1 5只纯合子型叉头框 C2基因突变鼠 ;这些纯合子型动物心脏的室间隔有细小的缝隙连通左右心室 ;原位杂交显示在 1 0 .5 d的胚胎心室内膜有 Fox C2m RNA的表达。结论 :敲除叉头框

Objective\ To study the roles of forkhead box C2 ( Fox C2 ) in cardiovascular development. Methods Fox C2 deficient mice were reproduced by targeting mutation and the developmental anomaly in heart was analyzed. Results\ Of 98 newborns of mice, only 15 ones were homozygotes for Fox C2 mutation. Left and right ventricles of heart were communicated by a tiny crack on ventricular septa in these homozygote animals. In situ hybridization analysis on 10 5 days embryos showed that Fox C2 mRNA expressed at endocardium of ventricle. Conclusion Targeting mutation of Fox C2 gene can result in ventricular septal defect.