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| Nomenclature |
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Symbol:
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Hbbtm3(HBG1,HBB)Tow
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Name:
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hemoglobin beta chain complex;
targeted mutation 3, Timothy Townes
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MGI ID: |
MGI:3790756 |
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Synonyms: |
-383 gamma-betaA, Hbbtm3(HBB)Tow |
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Gene:
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Hbb
Location:
unknown
Genetic Position: Chr7,
Syntenic
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:134980
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Intergenic deletion |
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Mutation details: In 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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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)
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| References |
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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
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All: |
6 reference(s)
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Analysis Tools
