The transgene contains a mouse cardiac phospholamban cDNA with a point mutation (TCC->GCC) that encodes alanine instead of serine at amino acid position 16 of the protein (S16A) and a second point mutation (ACT->GCT) that encodes alanine instead of threonine at amino acid position 17 of the protein (T17A), followed by an SV40 polyadenylation signal, under control of the cardiac-specific alpha myosin heavy chain (myosin, heavy polypeptide 6, cardiac muscle, alpha) promoter. The replaced serine and threonine normally are phosphorylated, independently of one another and by different phosphorylases, in response to stimulation of cardiac muscle beta-adrenergic receptors. Northern blot analysis revealed cardiac expression of the 1.0 kb transcript from the transgene, and quantitative immunoblot analysis demonstrated 1.8 fold the wild-type level of phospholamban protein in the hearts of transgenic mice. (J:144920)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count