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Constructs expressing the human alpha2-globin gene from the locus control region of the human beta globin gene and the human hemoglobin beta gene containing the Sickle Antilles mutations (Glu6Val and Val23Ile) and the D Punjab mutation (Glu121Gln) also from the human locus control region were coinjected to create a line of mice with cointegrated transgenes. These three mutations in hemoglobin beta promote the polymerization of hemoglobin. This line contains approximately one copy of the HBB* gene and two copies of the HBA2 gene. (J:94193)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
