The transgene contains a PCR-generated 4.3kb fragment of the human HBB gene (912-5200) containing HS3 and HS4 of the human beta-globin locus control regions (LCR) inserted into a 12.4-kb fragment of the human HBB gene (32837-45203) including the mutant human HBG2 gene with a T at position -158 relative to the cap site, the HBG1 gene and the 3' enhancer. Founder line G203 was established and found to have multiple copies of the transgene. (J:66961)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count