The gene is disrupted by insertion of a lacZ-neo cassette into exon 5 via homologous recombination. The gene targeting event results in the disruption of the oligomerization domain at lysine 167 and disruption of one of two nuclear localization signals while HSE-binding activity is retained. The mutant protein is expected to be cytoplasmic and lack trimerization abilities. RT-PCR and Western blot analyses confirmed the absence of gene expression in testes of homozygous mutant animals and homozygous mutant embryos. (J:76942)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Insertion
--
1
--
6

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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