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A humanized BAC transgenic/knockout mouse model for HbE/beta-thalassemia.

Authors: Jamsai, D  Zaibak, F  Vadolas, J  Voullaire, L  Fowler, KJ  Gazeas, S  Peters, H  Fucharoen, S  Williamson, R  Ioannou, PA 
Citation: Jamsai D, etal., Genomics. 2006 Sep;88(3):309-15. Epub 2006 May 2.
Pubmed: (View Article at PubMed) PMID:16631345
DOI: Full-text: DOI:10.1016/j.ygeno.2006.03.009

Hemoglobin E (HbE) is caused by a G-->A mutation at codon 26 of the beta-globin gene, which substitutes Glu-->Lys. This mutation gives rise to functional but unstable hemoglobin and activates a cryptic splice site causing mild anemia. HbE reaches a carrier frequency of 60-80% in some Southeast Asian populations. HbE causes serious disease when co-inherited with a beta-thalassemia mutation. In this study, we report the creation and evaluation of humanized transgenic mice containing the beta(E) mutation in the context of the human beta-globin locus. Developmental expression of the human beta(E) locus transgene partially complements the hematological abnormalities in heterozygous knockout mice ((mu)beta(th-3/+)) and rescues the embryonic lethality of homozygous knockout mice ((mu)beta(th-3/th-3)). The phenotype of rescued mice was dependent on the transgene copy number. This mouse model displays hematological abnormalities similar to HbE/beta-thalassemia patients and represent an ideal in vivo model system for pathophysiological studies and evaluation of novel therapies.


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RGD Object Information
RGD ID: 11353868
Created: 2016-07-25
Species: All species
Last Modified: 2016-07-25
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.