在exon 29的Proline第1019位(密码子CCT)被设计替换为Arginine(密码子CGT),通过sgRNA(靶向序列TTGAGAATACTCACAAGAGGAGG)和ssODN模板(ATTTCGAAGGCCAAAGAATATACATCTCCGAAATTTCTATATCATTGTTCGTCCTCTTGTGAGTATTCTCAAAACTAGAAGTGAGTTATTGATGGGTGTTAATACAGATTCAGTTTCCATAAAGCA)使用CRISPR/Cas9技术实现。这种突变模拟了某些人类Wiskott-Aldrich综合症患者中发现的突变。(来源:J:303795)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count