CRISPR/Cas9 endonuclease-mediated genome editing is used to create an amino acid substitutions at positions 461 (lysine to phenylalanine, K461F, AAA to TTT), 478 (lysine to phenylalanine, K478F, AAG to TTT), and 489 (arginine to phenylalanine, R489F, CGG to TTC) in the activation function 1 domain.. (J:94077)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count