Exon 2,包含ATG启动子,通过CRISPR/Cas9技术用两个sgRNAs(针对TTTGTCAAACCATGGAAGTGGGG和CCGCCACCTGATGGATGAAGGG)进行靶向,产生了73bp的缺失。通过脑组织提取物的免疫印迹实验,确认了这个等位基因上肽表达的缺失。(来源:J:306957)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count