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Human Disease and Mouse Model Detail
Human Disease Carnitine Deficiency, Systemic Primary; CDSP
OMIM ID: 212140
Human Phenotype Ontology associations
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
View all models View ALL (1) mouse models for this human disease.
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     SLC22A5* Slc22a5* View 1 model HomoloGene and HGNC
References Disease References using Mouse Models (8)

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
MGI 6.07
The Jackson Laboratory