The transgene comprises a full length cDNA encoding human caspase activation inhibitor (AVEN) inserted into the pCAGGS vector downstream of the "CAG promoter" -- which consists of the cytomegalovirus immediate early (CMV-EI) enhancer followed by a 1.3-kb DNA segment including the promoter, first exon and first intron of the chicken beta-actin gene with the 3' splice junction sequence replaced by that of the rabbit hemoglobin beta gene -- and followed by the rabbit beta-hemoglobin polyadenylation signal and 3' flanking sequence. Significant overexpression of AVEN is observed only in the heart. (J:82809)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count