CRISPR/Cas9 technology (using sgRNA 5'-CACCAACCGATCAGACTGTG-3') introduced a GA to AC change resulting in an arginine to histidine substitution at amino acid 1305 (R1305H), corresponding to a R1346H mutation identified in human schizophrenia proband. (J:302192)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count