Glutamine codon 133 (GGG) was changed to valine (GTA) (p.G133V) using an sgRNA (targeting CTGCGGAGACTGCACCGCGC) and an ssODN template with CRISPR/Cas9 technology. This mutation mimics the same human mutation associated with HIGM2 (hyper-IgM syndrome type 2). (J:305843)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count