A 4.7 kb human A gamma globin (HBG1) gene fragment (GenBank id: U01317: 38,066-43,728), a 2.9 kb human delta globulin gene fragment (HBD, U01317: 54,336-57,279), a 4.1 kb human beta globin (HBB, U01317:61,320-65,426) gene fragment, and a floxed pgk-hygromycin cassette replaced the Hbb-b1 and Hbb-b2. The HBB gene fragment contained a single G to A mutation in the first base of intron 1 destroying the normal splice donor site and creating a null allele. The switch from expression of HBG1 to expression of HBB is also delayed until after birth by this point mutation. (J:148521)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Not Specified
Targeted
Insertion, Intergenic deletion
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1

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

References Literature

Title
PMID
Journal
Year
IF
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