TALEN technology inserted a CAG promoter, loxP-flanked STOP, and ERBB2 containing a valine to leucine substitution at amino acid 777 into the locus. The p.V777L mutation is a constitutively activated mutation identified in human colorectal cancer patients. (J:314240)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count