The transgenic construct is designed with a human skeletal actin (ACTA1 or HSA) promoter followed by a human ATP2A1 exon 22 minigene with a single base deletion to reduce the number of base pairs from 42 to 41. The deletion allows transcription to bypass a stop codon and shift the reading frame. The ATP2A1 minigene is followed by sequence from a DsRed reporter fused to a GFP reporter. If alternative splicing includes exon 22 then the DsRed sequence is in-frame; if exon 22 is skipped then the reading frame shifts to GFP. The bichromatic shift occurs because DsRed has two open reading frames. (J:267578)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count