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Human Disease and Mouse Model Detail
Human Disease Maple Syrup Urine Disease; MSUD
OMIM ID: 248600
Human Phenotype Ontology associations
Synonyms BCKD Deficiency; Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency; Branched-Chain Ketoaciduria; Maple Syrup Urine Disease
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

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     DBT* Dbt* View 3 models HomoloGene and HGNC
     BCAT2 Bcat2* View 1 model HomoloGene and HGNC
PPM1K Ppm1k* View 1 model HomoloGene and HGNC
     BCKDHA* Bckdha   HomoloGene and HGNC
BCKDHB* Bckdhb   HomoloGene and HGNC
References Disease References using Mouse Models (3)

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