The transgenic insert contains the human alpha globin 2 (HBA2) gene under the control of the locus control region (LCR) of the human beta globin gene and a second transgenic insert containing a mutant human beta globin (HBB) gene with the E26K point mutation (position 26 glutamic acid to lysine). The E26K point mutation results in a hemoglobin variant called hemoglobin E. Hemoglobin E is most commonly found in people from Southeast Asia. (J:134035)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count