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Human Disease and Mouse Model Detail
Human Disease

Term: Porphyria, Congenital Erythropoietic
OMIM ID: 263700

Synonyms CEP; Gunther Disease; Uroporphyrinogen III Synthase Deficiency; Uros 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...
Uros UROS
  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
Urostm1Cged/Urostm1Cged   involves: 129S2/SvPas J:105776
Urostm2Rjde/Urostm3Rjde   involves: 129S6/SvEvTac * C57BL/6 J:132542
Urostm3Rjde/Urostm3Rjde   involves: 129S6/SvEvTac * C57BL/6 J:132542

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