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Human Disease and Mouse Model Detail
Human Disease Cerebral Creatine Deficiency Syndrome 1; CCDS1
OMIM ID: 300352
Synonyms Creatine Deficiency Syndrome, X-Linked; Creatine Transporter Defect; Mental Retardation, X-Linked, with Creatine Transport Deficiency; Mental Retardation, X-Linked, with Seizures, Short Stature, and Midface Hypoplasia
View all models View ALL (2) mouse models for this human disease.
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Gene is associated with the disease in this species
      Mouse Homologs Human Homologs Mouse Models Mouse : Human
Homology Class
     Slc6a8* SLC6A8* View 2 models 1:1 Homology
References Disease References using Mouse Models (2)

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
08/26/2014
MGI 5.19
The Jackson Laboratory