在CRISPR/Cas9技术中,1974位的Arginine被一个gRNA( CATTCGGGCATCCAGATCTG)和供体寡核苷酸靶向。这导致了Arginine变为Alanine的突变(p.R1974A),从而阻止了Notch细胞内域(NICDs)的二聚化。(来源:J:296947)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count