Ontology highlight
ABSTRACT:
ORGANISM(S): Mus musculus
DISEASE(S): murine hereditary hemochromatosis
SUBMITTER: Nancy Andrews
PROVIDER: E-MEXP-5 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Muckenthaler Martina M Roy Cindy N CN Custodio Angel O AO Miñana Belén B deGraaf Jos J Montross Lynne K LK Andrews Nancy C NC Hentze Matthias W MW
Nature genetics 20030501 1
Individuals with hereditary hemochromatosis suffer from systemic iron overload due to duodenal hyperabsorption. Most cases arise from a founder mutation in HFE (845G-->A; ref. 2) that results in the amino-acid substitution C282Y and prevents the association of HFE with beta2-microglobulin. Mice homozygous with respect to a null allele of Hfe (Hfe-/-) or homozygous with respect to the orthologous 882G-->A mutation (Hfe(845A/845A)) develop iron overload that recapitulates hereditary hemochromatosi ...[more]