CRISPR/cas9 mediated recombination created a 2 amino acid substitution (phenylalanine 18 and serine 19 to leucine and isoleucine, respectively) that disrupts the interaction with Transducin-like Enhancer of Split proteins. (J:342149)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count