Germline, cre mediated recombination was used to remove the beta-geo cassette leaving exons 10 through 13 floxed. Subsequent molecular analysis revealed that two adenine-to-guanine point mutations were inadvertently introduced into the tower domain during the gene targeting process. These resulted in the predicted amino acid changes E413G and M448V in the encoded protein. These residues have been implicated in protein-protein interactions with other regulatory proteins. Microarray and qRT-PCR analysis demonstrated that mRNA levels were decreased by ~50% in E18.5 homozygous hearts, indicating a hypomorphic allele. (J:144527, J:270116)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion, Nucleotide substitutions
--
1
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

Title
PMID
Journal
Year
IF
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