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Targeted Allele Detail
Symbol: Hbbtm1.1(HBG1,HBB*)Ryan
Name: hemoglobin beta chain complex; targeted mutation 1.1, Thomas M Ryan
MGI ID: MGI:3843171
Synonyms: gamma beta0
Gene: Hbb  Location: unknown  Genetic Position: Chr7, Syntenic
Hbbtm1.1(HBG1,HBB*)Ryan/Hbb+ mice have a severe Beta Thalassemic phenotype

Show the 3 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:147906
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence, Null/knockout)
Mutations:    Insertion, Intergenic deletion
Mutation detailsA 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)
Generation of the Hbbtm1.1(HBG1,HBB*)Ryan allele
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Hbb Mutation:  25 strains or lines available
Authors state they used human gamma beta KI hprt tagged ES cells. (J:147906)
Original:  J:147906 Huo Y, et al., Humanized Mouse Model of Cooley's Anemia. J Biol Chem. 2009 Feb 20;284(8):4889-96
All:  1 reference(s)

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MGI 6.13
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