Article
The flatiron mutation in mouse ferroportin acts as a dominant negative to cause ferroportin disease.
Blood - 15 May 2007
Zohn Irene E, De Domenico Ivana, Pollock Andrew, Ward Diane McVey, Goodman Jessica F, Liang Xiayun, Sanchez Amaru J, Niswander Lee, Kaplan Jerry
Abstract excerpt
Ferroportin disease is caused by mutation of one allele of the iron exporter ferroportin (Fpn/IREG1/Slc40a1/MTP1). All reported human mutations are missense mutations and heterozygous null mutations in mouse Fpn do not recapitulate the human disease. Here we describe the flatiron (ffe) mouse with a missense mutation (H32R) in Fpn that affects its localization and iron export activity. Similar to human patients...
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