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This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Levy, J. E. Articles by Andrews, N. C. Search for Related Content PubMed PubMed Citation Articles by Levy, J. E. Articles by Andrews, N. C. Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, Vol. 94 No. 1 (July 1), 1999: pp. 9-11 The C282Y Mutation Causing Hereditary Hemochromatosis Does Not Produce a Null Allele Joanne E. Levy, Lynne K. Montross, Dena E. Cohen, Mark D. Fleming, and Nancy C. Andrews From the Division of Hematology/Oncology, Children's Hospital; Howard Hughes Medical Institute; the Division of Hematology and the Department of Pathology, Brigham and Women's Hospital; Program in Biological and Biomedical Sciences; and the Departments of Medicine and Pediatrics, Harvard Medical School, Boston, MA. Targeted mutagenesis was used to produce two mutations in the murine hemochromatosis gene (Hfe) locus. The first mutation deletes a large portion of the coding sequence, generating a null allele. The second mutation introduces a missense mutation (C282Y) into the Hfe locus, but otherwise leaves the gene intact. This mutation is identical to the disease-causing mutation in patients with hereditary hemochromatosis. Mice carrying each of the two mutations were bred and analyzed. Homozygosity for either mutation results in postnatal iron loading. The effects of the null mutation are more severe than the effects of the C282Y mutation. Mice heterozygous for either mutation accumulate more iron than normal controls. Interestingly, although liver iron stores are greatly increased, splenic iron is decreased. We conclude that the C282Y mutation does not result in a null allele. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: G. Ramey, J.-C. Deschemin, and S. Vaulont Cross-talk between the mitogen activated protein kinase and bone morphogenetic protein/hemojuvelin pathways is required for the induction of hepcidin by holotransferrin in primary mouse hepatocytes Haematologica, June 1, 2009; 94(6): 765 - 772. [Abstract] [Full Text] [PDF] G. Le Gac, I. Gourlaouen, C. Ronsin, V. Geromel, A. Bourgarit, N. Parquet, S. Quemener, C. Le Marechal, J.-M. Chen, and C. Ferec Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype Blood, December 15, 2008; 112(13): 5238 - 5240. [Abstract] [Full Text] [PDF] L. 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