在Hprt小基因中,替换了包含121bp近端启动子区域和exon 1的0.5kb序列。E13.5胚胎的Northern blot分析显示,纯合突变小鼠中不含exon 2和3序列的mRNA可检测不到。对纯合突变小鼠大脑组织的Western blot分析证实了该蛋白质的存在缺失。(来源:J:45775)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count