包含exons 8和9的3.2kb片段通过同源重组以相反方向替换为一个插入了PGK-hrpt cassette的区域。被删除区域编码了催化区域。通过Northern和Western印迹分析,没有在纯合突变大脑组织中检测到转录物或蛋白质。(信息已修正,由作者通知MGI) (来源:J:58116)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count