CRISPR/cas9 mediated recombination introduced C66A, C69A and R72G mutations in the RING domain. The resulting mutant protein is highly unstable. (J:264191)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count