Exon 2通过CRISPR/Cas9技术用三个shRNA导向序列靶向,这些序列为5'-ACACTATCTGGAGTCACTTA-3', 5'-CTACCTAGTAGCCAAGACTG-3', 和5'-AGTCATCTGGAAGATGGTGC-3'。有一只杂交鼠(founder mouse)出现了Exon 2内插入一个G碱基的变异(c.301_302insG),导致了框架突变和过早终止。(来源:J:291290)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count