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Hbbtm3(HBG1,HBB)Tow
Targeted Allele Detail
Nomenclature
Symbol: Hbbtm3(HBG1,HBB)Tow
Name: hemoglobin beta chain complex; targeted mutation 3, Timothy Townes
MGI ID: MGI:3790756
Synonyms: -383 gamma-betaA, Hbbtm3(HBB)Tow
Gene: Hbb  Location: unknown  Genetic Position: Chr7, Syntenic
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:134980
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutations:    Insertion, Intergenic deletion
 
Mutation detailsIn 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 (an A to T transversion in the sixth codon) were replaced with the human gamma chain, beta chain (lacking the sickle cell mutation) and 383 bp of sequence flanking the gamma chain. Cre-mediated recombination removed the floxed hygro cassette. (J:134980)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Find Mice (IMSR)
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:  21 strains or lines available
Notes
Mice heterozgyote for this and the Hbb allele, and homozygous for Hbatm1(HBA)Tow allele Show Phenotypic Similarity to Human Syndrome: Beta Thalassemia Minor (J:148521)

References
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:  7 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/12/2015
MGI 5.21
The Jackson Laboratory