The targeting event for this knock-out resulted in a 3 prime end recombination and an insertion on the 5 prime end causing an additional exon 3 in the allele downstream of exon 5. This additional exon 3 causes a premature stop codon at amino acid 255 and an unstable transcript (no smaller proteins were identified by Western blot analysis). RT-PCR, Northern and Western blot analysis confirmed the absence of a stable transcript and no detectable protein. (J:96306)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
Targeted
Insertion, Other
--
1
1
26

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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