ENU mutagenesis induced a non-synonymous T to A substitution resulting in the replacement of a hydrophobic amino acid Isoleucine with a hydrophilic amino acid Asparagine at position 813 (I813N) near the C-terminal end of the 942-amino acid protein. (J:222441)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count