Arginine codon 87 (CGC) was changed to cysteine (TGC) (c.259C>T p.R87C) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the human p.Arg87Cys mutation associated with West syndrome. (J:335442)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count