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Human Disease and Mouse Model Detail
Human Disease

Term: Carnitine Deficiency, Systemic Primary; CDSP
OMIM ID: 212140

Synonyms Carnitine Deficiency, Primary; Carnitine Deficiency, Systemic, Due to Defect in Renal Reabsorption of Carnitine; Carnitine Transporter, Plasma-Membrane, Deficiency of; Carnitine Uptake Defect; CUD; Systemic Carnitine Deficiency; SCD
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...
Slc22a5 SLC22A5
  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
Slc22a5jvs/Slc22a5jvs   C3H 8

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