CRISPR/Cas9导向的基因组编辑用于在635氨基酸(aa)等位2型(Ensembl transcript Slc6a8-203)中,替换第544位的脯氨酸(Pro)为亮氨酸(Leu),具体位置为P544L,从CCA变为CTG。635 aa的小鼠等位2型与人类等位1型在基因组同源性上。(来源:J:101977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count