ENU mutagenesis induced an A to G transition in exon 3 that results in an aspartic acid to glycine missense mutation (D83G). Dismutase activity of the mutant protein is severely reduced compared to the wild-type protein. (J:169366, J:219360)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count