A loxP site was inserted upstream of exon 4, a single base pair deletion was introduced in exon 4, and a loxP site and FRT flanked neo cassette were inserted downstream of exon 4 via homologous recombination. Flp mediated recombination removed the neo cassette. The single base pair deletion in exon 4 results in a frameshift mutation and a premature stop codon. Northern blot analysis showed a decrease in mRNA expression to 22% of wild-type in homozygous mice at P5. No protein expression was detected by western blot analysis of liver protein extracts from homozygous mice. (J:182805)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Not Specified
Targeted
Insertion, Intragenic deletion
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7

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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