Exon 19 was replaced with a copy containing an engineered mutation changing Thr1150 codon ACA to alanine codon GCC. This mutation prevents phosphorylation of the peptide at that residue and creates a kinase dead version of the peptide. It is the equivalent of a recombinant engineered Thr1160Ala mutation in human thought to protect the peptide from inhibition by PRKCE. The FRT site flanked neomycin resistance gene cassette that was inserted into intron 18 was removed through flp-mediated recombination. (J:239615)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count