The gene was disrupted by replacement of exons 1 and 2 with a PGK-neo cassette via homologous recombination resulting in deletion of the first 131 amino acids and a downstream frameshift. Homozygous mutant embryos were detected by PCR genotype analysis up to day E14.5. Western blot analysis of mouse embryonic fibroblasts derived from E12.5 homozygous mutant embryos showed an absence of protein product, thus confirming inactivation of the gene. (J:61666)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
10
3

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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