Exons 5 and 6 were replaced with a cassette containing the splice acceptor site of exon 5 fused to beta-galactosidase and neo. Alternative splicing of the targeted locus was expected to generate transcript encoding fusion proteins comprised of 29 amino terminal residues, encoded by either exon 1 or exon 4, followed by the beta galactosidase reporter. The putative fusion proteins were not expected to interact with or inhibit calcineurin. Normal transcript was undetected by Northern blot analysis of homozygous mutant heart tissue. Western blot analysis showed an absence of endogenous protein in homozygous mutant heart and brain tissue. Beta-galactosidase activity was detected and the expression pattern was similar to that of the endogenous gene. (J:81417)

Basic Information

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

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PMID
Journal
Year
IF
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