Using a crRNA (UCUGAUUCCAAAGUCCCCCAGUUUUAGAGCUAUGCUGUUUUG) and an ssODN template (TGTCCCATCAATGCTGCTTCGACATCTCCTCTGTCCTGAGCAGCAGCCAGAAGCTGGTGGAGCTGGACCTCgaTGACAATGCaCTGGGGGACTTTGGAATtcGATTGCTGTGTGTGGGACTGAAGCACCTGCTCTGCA) with CRISPR/Cas9 technology, serine codon 803 (AGT) was changed to aspartic acid (GAT) (p.S803D). This mutation is phosphomimetic for residue 803. (J:313659)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count