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Targeted Allele Detail
Symbol: Hbbtm2(HBG1,HBB*)Tow
Name: hemoglobin beta chain complex; targeted mutation 2, Timothy Townes
MGI ID: MGI:3790753
Synonyms: -1400-gamma-betaS, Hbbhbetas, Hbbtm2(HBB*)Tow, HbSS-Townes
Gene: Hbb  Location: unknown  Genetic Position: Chr7, Syntenic
Germline Transmission:  Earliest citation of germline transmission: J:134980
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutations:    Insertion, Intergenic deletion
Mutation detailsThe major and minor beta chains were replaced with a construct made of a 5.66 kb fragment of the human gamma chain including 1400 bp of 5' flanking sequence and a 4.1 kb fragment of the sickle cell form of human HBB in ES cells already containing a replacement of Hba complex with human HBA, Hbatm1(HBA)Tow. Cre-mediated recombination removed the floxed hygro cassette. (J:44160, J:134980)
View phenotypes for all genotypes (concatenated display).
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Hbb Mutation:  25 strains or lines available
Original:  J:134980 Wu LC, et al., Correction of sickle cell disease by homologous recombination in embryonic stem cells. Blood. 2006 Aug 15;108(4):1183-8
All:  17 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.04
The Jackson Laboratory