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Human Disease and Mouse Model Detail
Human Disease

Term: Porphyria Cutanea Tarda
OMIM ID: 176100

Synonyms PCT; PCT, 'Familial' Type; Pct, Type II; Porphyria Cutanea Tarda, Type II; Porphyria, Hepatocutaneous Type; Uroporphyrinogen Decarboxylase Deficiency
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
Urod UROD
  mousehuman...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
Hfetm2Nca/Hfetm2Nca
Urodtm1Kush/Urod+
  involves: C57BL/6J J:66704

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.

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