使用sgRNA(针对CCACTTCAAGTACCCAATCG)和ssODN模板(GTGAAGAGAGGCTGAAGTAATAGCTCAAGTAGATACATGCCAACAGTATAACCACAAATGTCACCAGCCGGCAGCTAATGTATTTCATGATTAAATGACTCGCGTTCTTTTTTGTCTTCAAGTACTGCTCAACGATTGGGTACTTGAAGTGGCTTTCAGATATCTCCCACAGACTGAAAAACAAAGCAAATAAAAATAAT),通过CRISPR/Cas9技术,将丝氨酸密码子(205的TCT)替换为Alanine(67的GCG),产生了p.S205A的突变,使得205位残基无法被磷酸化。(来源:J:314437)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count