ENU mutagenesis resulted in a nucleotide substitution at codon 112 of AAC to GAC that created an amino acid substitution of an aspartic acid for an asparagine at position 112 (N112D). This mutation occures in the coenzyme-binding domain and results in a decreased enzymatic activity to 58% of wild-type in heterozygotes. (J:45877)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count