Aspartic acid codon 173 (GAC) was changed to alanine (GCC) (p.D173A) using an sgRNA (targeting GACTCTGACCTCCTCGCATTTGG) and an ssODN template with CRISPR/Cas9 technology. The highly conserved mutated residue is located in the exonuclease site. (J:327354)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count