The transgene comprises 12.3 kb of human genomic DNA containing the GPD1 gene, consisting of 3.5 kb of 5' flanking sequence, the 7.6 kb protein-coding region and 1.2 kb of 3' flanking DNA. The 5' flanking sequence includes the proximal and distal promoter regions. Founder line 3 (GPDH-B) has approximately 4 copies of the transgene. The transgene is expressed at higher levels in the cerebral cortex and kidney than the endogenous gene. (J:135002)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count