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Human Disease and Mouse Model Detail
Human Disease

Term: Hemochromatosis; HFE
OMIM ID: 235200

Synonyms Hemochromatosis, Hereditary; HH; HLAH
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...
Hfe HFE
  mousehuman...both mouse and human orthologous genes.
     
B2m B2M
Heph HEPH
Hmox1 HMOX1
Tfrc TFRC
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Bmp2 BMP2
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
B2mtm1Unc/B2mtm1Unc
Hfetm2Nca/Hfetm2Nca
  involves: 129S6/SvEvTac * C57BL/6J J:62112
Hfetm1.1Gfn/Hfetm1.1Gfn   B6.129P2-Hfetm1.1Gfn J:114351
Hfetm1.1Nca/Hfetm1.1Nca   Not Specified J:62112
Hfetm1.1Nca/Hfetm1.1Nca   involves: 129S6/SvEvTac J:78536
Hfetm1.1Nca/Hfetm1.1Nca   involves: 129S6/SvEvTac * C57BL/6J J:78536
Hfetm1.1Nca/Hfetm1.1Nca
Tfrctm1Nca/Tfrc+
  Not Specified J:62112
Hfetm1.1Wsr/Hfetm1.1Wsr   involves: 129P2/OlaHsd * C57BL/6 J:141745
Hfetm1Gfn/Hfetm1Gfn   involves: 129P2/OlaHsd * C57BL/6 J:68025
Hfetm1Sly/Hfetm1Sly   Not Specified J:88143
Hfetm1Sly/Hfetm2Sly   involves: 129X1/SvJ * C57BL/6J J:88143
Hfetm2Nca/Hfetm2Nca
Tfrctm1Nca/Tfrc+
  involves: 129S6/SvEvTac J:62112
Hfetm2Nca/Hfetm2Nca   involves: 129S6/SvEvTac J:62112, J:78536
Hfetm2Nca/Hfetm2Nca   involves: 129S6/SvEvTac * C57BL/6J J:78536
Hfetm2Sly/Hfetm2Sly   involves: 129X1/SvJ * C57BL/6J J:88143
Hfetm2Sly/Hfetm3Sly   involves: 129X1/SvJ * C57BL/6J J:88143
Hfetm3Sly/Hfetm3Sly   involves: 129X1/SvJ * C57BL/6J J:88143
Models with phenotypic similarity to human disease where etiologies are distinct.2
B2mtm1Jae/B2mtm1Jae   involves: 129S2/SvPas J:17527
Hephsla/Hephsla   involves: C57BL/6J J:62112
Hmox1tm1Poss/Hmox1tm1Poss   involves: 129S2/SvPas * C57BL/6 J:79254
No similarity to the expected human disease phenotype was found.3
NOT Hfetm1Wsr/Hfetm1Wsr
Tg(Vil-cre)997Gum/?
4 involves: 129P2/OlaHsd * C57BL/6 * SJL J:141745

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
3One 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.
4Conditionally targeted allele(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory