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Title: A humanized mouse model for a common β<sup>0</sup>-thalassemia mutation
Authors: Duangporn Jamsai
Faten Zaibak
Wantana Khongnium
Jim Vadolas
Lucille Voullaire
Kerry J. Fowler
Sophie Gazeas
Suthat Fucharoen
Robert Williamson
Panayiotis A. Ioannou
University of Melbourne
Mahidol University
Cyprus Institute of Neurology and Genetics
Keywords: Biochemistry, Genetics and Molecular Biology
Issue Date: 1-Jan-2005
Citation: Genomics. Vol.85, No.4 (2005), 453-461
Abstract: Accurate animal models that recapitulate the phenotype and genotype of patients with β-thalassemia would enable the development of a range of possible therapeutic approaches. Here we report the generation of a mouse model carrying the codons 41-42 (-TTCT) β-thalassemia mutation in the intact human β-globin locus. This mutation accounts for approximately 40% of β-thalassemia mutations in southern China and Thailand. We demonstrate a low level of production of γ-globins from the mutant locus in day 18 embryos, as well as production of mutant human β-globin mRNA. However, in contrast to transgenic mice carrying the normal human β-globin locus, 4-bp deletion mice fail to show any phenotypic complementation of the knockout mutation of both murine β-globin genes. Our studies suggest that this is a valuable model for gene correction in hemopoietic stem cells and for studying the effects of HbF inducers in vivo in a "humanized" thalassemic environment. © 2004 Elsevier Inc. All rights reserved.
ISSN: 08887543
Appears in Collections:Scopus 2001-2005

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