Flatiron mice and ferroportin disease.
Flatiron mice provide the first genetic model that fully recapitulates the iron-loading disorder ferroportin disease. Unlike the other known genetic causes of hemochromatosis, missense mutations in the ferroportin gene are autosomal dominant. These new findings show that ferroportin disease results from dominant negative effects rather than haplo-insufficiency.
Johnson
Erin E
EE
Department of Genetics and Complex Diseases, Harvard School of Public Health, Boston, MA 02115, USA.
Wessling-Resnick
Marianne
M
D000818:Animals; D030801:Animals, Genetically Modified; D027682:Cation Transport Proteins / Q000235:genetics*; D004195:Disease Models, Animal; D005799:Genes, Dominant; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000378:metabolism; D019189:Iron Metabolism Disorders / Q000235:genetics*; D051379:Mice; D008817:Mice, Mutant Strains; D009154:Mutation; D000098742:Ferroportin
D027682:Cation Transport Proteins; D000098742:Ferroportin; D007501:Iron
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