A pgk-neo cassette was inserted into exon 1 resulting in a frameshift at amino acid 14 and a premature stop codon 6 amino acids downstream of the frameshift. RT-PCR confirmed the absence of RNA expression in the brain, liver, and kidney of homozygous mice. Western blot and immunohistochemical analysis confirmed the absence of protein expression in homozygous mice. (J:131019, J:145858)

Basic Information

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