CRISPR/cas9 endonuclease-mediated genome editing is used to create a tyrosine to alanine substitution at position 142 (Y142A, TAC to GCT) and a G to A substitution two bases downstream (creating an AflII target site). The mutation disrupts phosphorylation of Y142. (J:321790)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count