Publication: A humanized mouse model for a common β<sup>0</sup>-thalassemia mutation
Issued Date
2005-01-01
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ISSN
08887543
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2-s2.0-20144373162
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Mahidol University
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SCOPUS
Bibliographic Citation
Genomics. Vol.85, No.4 (2005), 453-461
Suggested Citation
Duangporn Jamsai, Faten Zaibak, Wantana Khongnium, Jim Vadolas, Lucille Voullaire, Kerry J. Fowler, Sophie Gazeas, Suthat Fucharoen, Robert Williamson, Panayiotis A. Ioannou A humanized mouse model for a common β<sup>0</sup>-thalassemia mutation. Genomics. Vol.85, No.4 (2005), 453-461. doi:10.1016/j.ygeno.2004.11.016 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/16396
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Title
A humanized mouse model for a common β<sup>0</sup>-thalassemia mutation
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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.