Gamme radiation-induced mutagenesis resulted in a transition in codon 241 (ATC to ACC) that caused an amino acid substitution of threonine for isoleucine at position 241 (I241T). Enzyme activity is reduced to 59% of wild-type in heterozygotes and 29% of wild-type in homozygotes. (J:45877)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3H/El
Radiation induced
Single point
--
1
1
1

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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