大部分exon 2和全部exon 3被替换为lacZ基因,与exon 2的5'端整合,形成一个无内含子真性突变基因。由于lacZ基因后面的转录被终止,所以这是个null突变。lacZ的表达由内源性启动子驱动。(来源:J:76062, J:103719)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count