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Human Disease and Mouse Model Detail
Human Disease Alpha-Methylacetoacetic Aciduria
OMIM ID: 203750
Synonyms 2-methyl-3-Hydroxybutyric Acidemia; 3-Ketothiolase Deficiency; 3-Ktd Deficiency; 3-Oxothiolase Deficiency; Beta-Ketothiolase Deficiency; MAT Deficiency; Mitochondrial Acetoacetyl-CoA Thiolase Deficiency; T2 Deficiency
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
     ACAT1* Acat1   HomoloGene and HGNC

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 6.03
The Jackson Laboratory