Glutamine codon 1963 (CAG) in exon 26 was changed to a stop codon (TAG) (p.Q1963*) and a sequence coding for a 3x FLAG tag was inserted immediately upstream of codon 1963 using an sgRNA and an ssODN template with CRISPR/Cas9 technology. (J:342674)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count