ENU treatment induced a T-to-A mutation, resulting in a valine to aspartic acid substitution at amino acid 26 (p.V26D) in an invariant N-terminal sequence motif. Western blot analysis indicated protein expression was increased 1.6 and 2.2 fold in heterozygous and homozygous embryos, respectively, relative to wild-type mice. Protein half-life is increased in homozygous MEFs relative to wild-type MEFs. (J:98216, J:171894)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
4
2

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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