Exon 3被替换为一个带有核苷酸替换的,导致第114位的Arginine被Aspartic acid替换(R114D)。通过Flp介导的重组,去除了插入到内含子5的筛选元件,以及内含子9的puromycin cassette。剩下的6到9号外显子保持了可翻转状态。(来源:J:288980)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count