ENU mutagenesis induced a T to C transition in exon 8 that alters an evolutionarily conserved leucine to a proline at amino acid 375 (L375P), in the winged-helix domain. The mutant protein is expressed and stable, but is nonfunctional in caspase cleavage assays. (J:201947)

Basic Information

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