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Human Disease and Mouse Model Detail
Human Disease

Term: Chanarin-Dorfman Syndrome; CDS
OMIM ID: 275630

Synonyms Chanarin-Dorfman Disease; Dorfman-Chanarin Syndrome; DCS; Ichthyosiform Erythroderma with Leukocyte Vacuolation; Ichthyotic Neutral Lipid Storage Disease; Neutral Lipid Storage Disease with Ichthyosis; NLSDI; Triglyceride Storage Disease with Impaired Long-Chain Fatty Acid Oxidation
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...
Abhd5 ABHD5
  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
Abhd5tm1.1Rze/Abhd5tm1.1Rze   involves: 129P2/OlaHsd * C57BL/6 J:160725

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