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Allele : Hbb-b1<tm1Shs> hemoglobin, beta adult major chain; targeted mutation 1, Takuji Shirasawa
Primary Identifier  MGI:2384424 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Hbb-b1
Transmission  Germline Strain of Origin  Not Specified
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • Hbb<Pres>,
  • Hbb<Pres>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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Trail: Allele




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