Cysteine codon 231 (TGC) in exon 9 was changed to serine (AGC) (p.C231S) using an sgRNA (targeting CGTGGTTGTGTTGTACTGCA ) and an ssODN template with CRISPR/Cas9 technology. (J:296747)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count