ENU mutagenesis generated a C to T transition that results in an amino acid substitution of threonine for isoleucine at position 95 (I95T). This mutation results in a 90% decrease in enzymatic activity. (J:134504)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count