Sequence encoding an FRB* peptide tag was inserted into exon 5, immediately following the last codon of the coding sequence. This allele produces a protein with a C-terminal FRB* peptide tag that prevents interaction with PPP3CA, thereby eliminating calcium-dependent activation of PPP3CA catalytic activity. An assay indicated the abrogation of caclcineurin phosphatase activity. (J:70266)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count