Aspartic acid codon 18 (GAC) was changed to asparagine (AAT) (p.D18N) using an sgRNA (targeting CCACTGGCCTGCCTTCGTCT) and an ssODN template with CRISPR/Cas9 technology. The equivalent human mutation is associated with familial chilblain lupus (FCL). (J:295560)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count