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Human Disease and Mouse Model Detail
Human Disease

Term: Xeroderma Pigmentosum, Complementation Group E
OMIM ID: 278740

Synonyms Xeroderma Pigmentosum V; XP5; XPE; XP, Group E
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...
Ddb2 DDB2
  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
Ddb2tm1Linn/Ddb2tm1Linn   involves: 129S/SvEv * C57BL/6 J:88125
Ddb2tm1Linn/Ddb2+   involves: 129S/SvEv * C57BL/6 J:88125
Ddb2tm1Pra/Ddb2+   involves: C57BL/6 J:95633
Ddb2tm1Pra/Ddb2tm1Pra   involves: C57BL/6 J:95633

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