Hbb-b1^tm1Shs

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Species

Mus musculus

Symbol

Hbb-b1^tm1Shs

Category

allele

Allele of gene

Hbb-b1

Transgenic Constructs

None

Synonyms

• Hbb^Pres

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations