Lysine codon 125 (AAG) in exon 3 was changed to arginine (AGG) (c.374A>G, p.K125R) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation blocks sumoylation of the affected residue in the encoded peptide. (J:338751)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count