A 5.7 kb human A gamma globin (HBG1) gene fragment (GenBank id: U01317: 38,066-43,728), a 4.1 kb human beta globin (HBB) gene fragment, and a floxed pgk-hygromycin cassette replaced the Hbb-b1 and Hbb-b2. The human beta globin gene fragment contained a single G to A mutation in the first base of intron 1 destroying the normal splice donor site. The switch from expression of HBG1 to expression of HBB is delayed until after birth. The mutant HBB locus produces only short lived aberrantly spliced transcripts. (J:147906)

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

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PMID
Journal
Year
IF
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