CRISPR/cas9 mediated recombination created a C to A mutation resulting in substitution of an alanine for an aspartic acid in the DSG domain. This mutation is predicted to disrupt the protease activity of the protein. (J:311930)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count