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)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count