Hbb-b1^tm1Shs
Targeted Allele Detail

Summary

• Symbol: Hbb-b1^tm1Shs
• Name: hemoglobin, beta adult major chain; targeted mutation 1, Takuji Shirasawa
• MGI ID: MGI:2384424
• Synonyms: Hbb^Pres
• Gene: Hbb-b1 Location: unknown Genetic Position: Chr7, 54.85 cM
• Alliance: Hbb-b1^tm1Shs page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:78271
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A 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)

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• 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: 7 strains or lines available

References

• 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)