这个等位基因是通过shotgun CRISPR/Cas9编辑通过设计针对Pcdhg基因簇每个可变外显子的pool sgRNAs产生的,且这个特定的等位基因在可变外显子B8仅发现了一个框移的插入突变。 (Source: The allele was generated through CRISPR/Cas9 with pooled sgRNAs targeting Pcdhg variable exons, and it had a frameshifting indel in exon B8.)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count