Human Disease and Mouse Model Detail

Human Disease

Term: Hemochromatosis, Type 4; HFE4
OMIM ID: 606069

Synonyms

Hemochromatosis, Autosomal Dominant; Hemochromatosis Due to Defect in Ferroportin

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Slc40a1

SLC40A1

...both mouse and human orthologous genes.

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Slc40a1^ffe/Slc40a1⁺			either: (involves: 129X1/SvJ * C57BL/6J) or (involves: C3H/HeJ * C57BL/6J)	J:118592
No similarity to the expected human disease phenotype was found.²
NOT	Slc40a1^tm1Nca/Slc40a1⁺		involves: 129S4/SvJae * 129S6/SvEvTac	J:129846

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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