A mouse model for beta(super 0)-thalassemia

Baoli Yang; Suzanne Kirby; Jada Lewis; Peter J Detloff; Nobuyo Maeda; Oliver Smithies

doi:10.1073/pnas.92.25.11608

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A mouse model for beta(super 0)-thalassemia

Journal article

Open access

Peer reviewed

A mouse model for beta(super 0)-thalassemia

Baoli Yang, Suzanne Kirby, Jada Lewis, Peter J Detloff, Nobuyo Maeda and Oliver Smithies

Proceedings of the National Academy of Sciences - PNAS, Vol.92(25), pp.11608-11612

12/05/1995

DOI: 10.1073/pnas.92.25.11608

PMID: 8524813

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Abstract

We have used a "plug and socket" targeting technique to generate a mouse model of beta 0-thalassemia in which both the b1 and b2 adult globin genes have been deleted. Mice homozygous for this deletion (Hbbth-3/Hbbth-3) die perinatally, similar to the most severe form of Cooley anemia in humans. Mice heterozygous for the deletion appear normal, but their hematologic indices show characteristics typical of severe thalassemia, including dramatically decreased hematocrit, hemoglobin, red blood cell counts, mean corpuscular volume, mean corpuscular hemoglobin, and mean corpuscular hemoglobin concentration, as well as dramatically increased reticulocyte counts, serum bilirubin concentrations, and red cell distribution widths. Tissue and organ damage typical of beta-thalassemia, such as bone deformities and splenic enlargement due to increased hematopoiesis, are also seen in the heterozygous animals, as is spontaneous iron overload in the spleen, liver, and kidneys. The mice homozygous for the b1 and b2 deletions should be of great value in developing therapies for the treatment of thalassemias in utero. The heterozygous animals will be useful for studying the pathophysiology of thalassemias and have the potential of generating a model of sickle cell anemia when mated with appropriate transgenic animals.

Physiological aspects

Thalassemia

Research

Mutation (Biology)

Details

Title: Subtitle: A mouse model for beta(super 0)-thalassemia
Creators: Baoli Yang
Suzanne Kirby
Jada Lewis
Peter J Detloff
Nobuyo Maeda
Oliver Smithies
Resource Type: Journal article
Publication Details: Proceedings of the National Academy of Sciences - PNAS, Vol.92(25), pp.11608-11612
DOI: 10.1073/pnas.92.25.11608
PMID: 8524813
NLM abbreviation: Proc Natl Acad Sci U S A
ISSN: 0027-8424
eISSN: 1091-6490
Publisher: National Academy of Sciences
Language: English
Date published: 12/05/1995
Description audience: Academic
Academic Unit: BioVentures Center
Record Identifier: 9984083201802771

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