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In ES cells that were homozygous for Hbatm1(HBA)Tow and Hbbtm2(HBG1,HBB*)Tow the human gamma chain and beta chain containing the sickle cell mutation were replaced with 4.6 kb fragment of human HBB containing nucleotide substitutions that lead to an amino acid substitution of alanine for cysteine at position 93 of human HBB. Flanking sequence that extends to -815 of HBB as well as a floxed hygro cassette were also inserted. Cre-mediated recombination was used to remove the hygro cassette. (J:137709)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
