CRISPR/cas9基因编辑技术用于产生一个390个核苷酸的缺失,导致exon 5的完全丢失。选择的导向RNA针对exon 5上游的[ACTTTCCTATAACCCCAAGT; CTTGGGAGTGACACCTACTT]序列,以及下游的[AAGTAGATTTAGATAAAACT; AGTAGATTTAGATAAAACTT]区域。(来源:J:101977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count