A gene trap vector inserted into the intron between exons 3 and 4. The resulting insertional mutation is predicted to constitutively produce a fusion transcript comprised of exons 1-3 of the endogenous gene with the beta-galactosidase (LacZ) gene. Compared to controls, heterozygous mutants showed a 52%-54% whereas homozygous mutants showed a 90%-95% reduction in wild-type mRNA levels. Western analyses of dorsal cortical lysates using CASC3 antibody showed that a single protein product was detected. Compared to controls, wild-type expressed protein level was reduced by 72% in E16.5 homozygous mutant cortices, which was also apparent at E11.5 and E15.5. This suggests that this mutation is a strong hypomorphic allele. (J:240595)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Gene trapped
Insertion of gene trap vector
--
1
--
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

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PMID
Journal
Year
IF
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