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PMID:8524813

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Citation

Yang, B, Kirby, S, Lewis, J, Detloff, PJ, Maeda, N and Smithies, O (1995) A mouse model for beta 0-thalassemia. Proc. Natl. Acad. Sci. U.S.A. 92:11608-12

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.

Links

PubMed PMC40451

Keywords

Animals; Body Weight; Crosses, Genetic; Disease Models, Animal; Erythrocytes/pathology; Female; Gene Deletion; Globins/genetics; Heterozygote; Homozygote; Kidney/pathology; Liver/pathology; Male; Mice; Mice, Mutant Strains; Sequence Deletion; Spleen/pathology; beta-Thalassemia

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:HBB1

part_of

GO:0005833: hemoglobin complex

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1857295

C

  • part_of:(CL:0000232)

Seeded From UniProt

complete

MOUSE:HBB1

acts_upstream_of_or_within

GO:0048821: erythrocyte development

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:96022

P

  • results_in_development_of:(CL:0000232)

Seeded From UniProt

complete

MOUSE:HBB2

part_of

GO:0005833: hemoglobin complex

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1857296

C

  • part_of:(CL:0000232)

Seeded From UniProt

complete

MOUSE:HBB2

acts_upstream_of_or_within

GO:0048821: erythrocyte development

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:96021

P

  • results_in_development_of:(CL:0000232)

Seeded From UniProt

complete

MOUSE:HBB1

part_of

GO:0005833: hemoglobin complex

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1857295

C

part_of:(CL:0000232)

Seeded From UniProt

complete

MOUSE:HBB1

acts_upstream_of_or_within

GO:0048821: erythrocyte development

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:96022

P

results_in_development_of:(CL:0000232)

Seeded From UniProt

complete


See also

References

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