CRISPR/Cas9 technology generated an arginine to alanine change at amino acid 38 (R38A) and an arginine to alanine change at amino acid 82 (R82A). Silent mutations to remove the NGG protospacer adjacent motif and introduce restriction enzyme sites were also introduced. These mutations result in loss of heparan sulfate-Tie1 binding. (J:314106)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count