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)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(102/El x C3H/El)F1
Chemically induced
Single point
Recessive
1
1
4

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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