DOI: 10.1073/pnas.90.8.3177. Lethal thalassemia after insertional disruption of the mouse major adult beta-globin gene.

Lethal thalassemia after insertional disruption of the mouse major adult beta-globin gene.

10.1073/pnas.90.8.3177

Crossref journal-article

Proceedings of the National Academy of Sciences

Proceedings of the National Academy of Sciences (341)

Abstract

Thalassemias are hereditary anemias caused by mutations that disturb the normal 1:1 balance of alpha- and beta-globin chains that form hemoglobin. We have disrupted the major adult beta-globin gene (b1) in mouse embryonic stem cells by using homologous recombination to insert selectable sequences into the gene. Mice homozygous for this insertional disruption of the b1 gene (Hbbth-2/Hbbth-2) are severely anemic and die perinatally. In contrast, approximately 60% of mice homozygous for deletion of the same gene (Hbbth-1/Hbbth-1) survive to adulthood and are much less anemic [Skow, L. C., Burkhart, B. A., Johnson, F. M., Popp, R. A., Goldberg, S. Z., Anderson, W. F., Barnett, L. B. & Lewis, S. E. (1983) Cell 34, 1043-1052]. These different phenotypes have implications for the control of beta-globin gene expression.

Bibliography

Shehee, W. R., Oliver, P., & Smithies, O. (1993). Lethal thalassemia after insertional disruption of the mouse major adult beta-globin gene. Proceedings of the National Academy of Sciences, 90(8), 3177â3181.

Authors 3

W R Shehee (first)
P Oliver (additional)
O Smithies (additional)

References 0 Referenced 64

None

Dates

Type	When
Created	19 years, 3 months ago (May 31, 2006, 8:43 a.m.)
Deposited	3 years, 4 months ago (April 13, 2022, 1:27 p.m.)
Indexed	1 month, 3 weeks ago (July 12, 2025, 6:59 p.m.)
Issued	32 years, 4 months ago (April 15, 1993)
Published	32 years, 4 months ago (April 15, 1993)
Published Online	32 years, 4 months ago (April 15, 1993)
Published Print	32 years, 4 months ago (April 15, 1993)

Funders 0

None

BibTeX

@article{Shehee_1993, title={Lethal thalassemia after insertional disruption of the mouse major adult beta-globin gene.}, volume={90}, ISSN={1091-6490}, url={http://dx.doi.org/10.1073/pnas.90.8.3177}, DOI={10.1073/pnas.90.8.3177}, number={8}, journal={Proceedings of the National Academy of Sciences}, publisher={Proceedings of the National Academy of Sciences}, author={Shehee, W R and Oliver, P and Smithies, O}, year={1993}, month=apr, pages={3177–3181} }

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