生物
突变体
互补
基因座(遗传学)
转基因
遗传学
人性化鼠标
珠蛋白
表型
分子生物学
基因
突变
体内
作者
Duangporn Jamsai,Faten Zaibak,Wantana Khongnium,Jim Vadolas,Lucille Voullaire,Kerry J. Fowler,Sophie Gazeas,Suthat Fucharoen,Robert Williamson,Panayiotis A. Ioannou
出处
期刊:Genomics
[Elsevier]
日期:2005-04-01
卷期号:85 (4): 453-461
被引量:47
标识
DOI:10.1016/j.ygeno.2004.11.016
摘要
Accurate animal models that recapitulate the phenotype and genotype of patients with beta-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) beta-thalassemia mutation in the intact human beta-globin locus. This mutation accounts for approximately 40% of beta-thalassemia mutations in southern China and Thailand. We demonstrate a low level of production of gamma-globins from the mutant locus in day 18 embryos, as well as production of mutant human beta-globin mRNA. However, in contrast to transgenic mice carrying the normal human beta-globin locus, 4-bp deletion mice fail to show any phenotypic complementation of the knockout mutation of both murine beta-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.
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