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| Nomenclature |
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Symbol:
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Hbb-b1tm1Shs
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Name:
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hemoglobin, beta adult major chain;
targeted mutation 1, Takuji Shirasawa
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MGI ID: |
MGI:2384424 |
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Synonyms: |
HbbPres |
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Gene:
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Hbb-b1
Location:
unknown
Genetic Position: Chr7,
54.85 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:78271
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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, Nucleotide substitutions |
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Mutation details: A missense mutation (Asn to Lys) generated at codon 108 via site directed mutagenesis was incorporated, along with an intronic floxed neo cassette, at the endogenous locus by homologous recombination. This mutation recapitulates the mutation responisble for Presbyterian hemoglobinopathy. The amino acid substitution was confirmed by RP-HPLC and mass-spectrometric analysis of purified beta chain. (J:78271)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Hbb-b1 Mutation:
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3 strains or lines available |
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| References |
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Original: |
J:78271
Suzuki Y et al.,
"Model mice for Presbyterian hemoglobinopathy (Asn(beta108)-->Lys) confer hemolytic anemia with altered oxygen affinity and instability of Hb."
Biochem Biophys Res Commun 2002 Jul 26;295(4):869-76
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All: |
2 reference(s)
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Analysis Tools
