Genomic sequence starting 8.5 kb upstream of the translation initiation site and containing some 5' exons, was fused to a cDNA containing the remaining 3' sequence (including 3' UTR). The cDNA had been mutagenized to change threonine codon 286 (ACC) to an aspartic acid codon (GAC) (p.T286D), which creates a phosphomimic in the peptide. The mutant peptide is 20- to 30-fold more active as a kinase in the absence of Ca(2+) than the wild-type form. Three mouse lines successfully transmitted the allele, and lines P3 and P15 were studied further. Line P3 has 4 copies of the transgene. Northern blot and RT-PCR experiments showed expression of the transgene. (J:271403)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count