在exon 7的AGA密码子被替换为histidine( CAT)的密码子,即R318H,这在人类的ectrodactyly, ectodermal dysplasia, clefting syndrome中等同于R279H突变。此外,插入了neomycin cassette,它被loxP位点前后标记,位于exon 5上游,exon 7下游。通过Cre介导的重组,去除了neomycin cassette以及编码DNA结合区域的exons 5到7,产生了无功能的等位基因。(来源:J:294158)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count