将人类的整个cystatin C基因,其中第68位的亮氨酸替换为谷氨酰胺(L68Q)的单点突变,这个突变发生在exon 2(不包括人类的启动子),被插入到小鼠cystatin C基因的启动子下游。ELISA检测证实了人体蛋白存在于附睾腔液中,脑和睾丸的匀浆也通过 Western blot 验证了在附睾腔液中的表达。(来源:J:210672)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count