An amino terminal exon, encoding residues conserved in DNA-binding domains, was disrutped by the insertion of a PGK-neo cassette. RT-PCR analysis indicated aberrant splicing in which the targeted exon had been excised, resulting in a frameshift mutation that introduced a nonsense mutation at amino acid 438. Protein encoded by the mutant transcript was undetected by several antibodies in extracts from homozygous mutant mice. A DNA-binding assay showed reduced activity in cytosolic extracts of homozygous mutant T cells (the residual activity was attributed to the presence of protein encoded by Nfatc1). (J:33105)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion
--
1
1
35

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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