The second coding exon was replaced with a neomycin selection cassette. RT-PCR confirmed the absence of normal transcript. While no normal protein was detected, a truncated protein was identified by Western blot analysis of homozygous mutant heart tissue. The mutant protein was translated from an aberrantly spliced mRNA in which exon 1 joined sequence downstream of neo. Gel mobility shift assays indicated an of ablation of endogenous DNA binding activity in homozygous mutant mice. (J:79973)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Intragenic deletion
--
1
1
8

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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