在该位置插入了β-actin启动子、含loxP标记的TK-Neo STOP cassette,随后是带有Leucine到Proline替换(p.L22P,CTC替换为CCC)的Polb基因。这种变异导致5-deoxyribose-5-phosphate lyase活性丧失和碱基修复效率降低。p.L22P变异在人类中与胃癌关联。这条突变株来自ES克隆89。(来源:J:340207)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count