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Human Disease and Mouse Model Detail
Human Disease Maple Syrup Urine Disease; MSUD
OMIM ID: 248600
Synonyms BCKD Deficiency; Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency; Branched-Chain Ketoaciduria
View all models View ALL (5) 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
     Dbt* DBT* View 3 models 1:1 Homology
     Bcat2* BCAT2 View 1 model 1:1 Homology
Ppm1k* PPM1K View 1 model 1:1 Homology
     Bckdha BCKDHA*   1:1 Homology
Bckdhb BCKDHB*   1:1 Homology
Dld DLD*   1:1 Homology
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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Send questions and comments to User Support. 		last database update
05/08/2013
MGI 5.13 		The Jackson Laboratory