将lysine的98位(AAA), 117位(AAG), 136位(AAG), 160位(AAG)和161位(AAG)编码替换为arginine,得到的等位基因分别为p.K98R, p.K117R, p.K136R, p.K160R和p.K161R。通过Cre介导的重组,移除了插入在内含子4的由loxP序列标记的诺卡因抗性基因元件。(来源:J:314680)
Basic Information
Insertion, Nucleotide substitutions
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count