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Targeted Allele Detail
Symbol: Hbb-b1tm1Shs
Name: hemoglobin, beta adult major chain; targeted mutation 1, Takuji Shirasawa
MGI ID: MGI:2384424
Synonyms: HbbPres
Gene: Hbb-b1  Location: unknown  Genetic Position: Chr7, 54.85 cM
Germline Transmission:  Earliest citation of germline transmission: J:78271
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsA missense mutation (Asn to Lys) generated at codon 108 (N108K) 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 responsible for Presbyterian hemoglobinopathy. The amino acid substitution was confirmed by RP-HPLC and mass-spectrometric analysis of purified beta chain. (J:78271)
View phenotypes for all genotypes (concatenated display).
Disease models
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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-b1 Mutation:  5 strains or lines available
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
All:  2 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
MGI 6.03
The Jackson Laboratory