将5号外显子替换为hygromycin载体导致4号和6号外显子间产生了一个框移。来自纯合突变小鼠大脑、肾脏、肺、心脏和肝脏的RNANorthern印迹确认了Psen2基因的全基因突变。使用针对Psen2蛋白N端和C端特异抗体的同源突变小鼠组织 Western blot,也证实了这一突变。(来源:J:58118)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count