About   Help   FAQ
Human Disease and Mouse Model Detail
Human Disease

Term: 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
Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene
Human Gene
 
Characteristics of this human disease are associated with mutations in...
     
Acat1 ACAT1
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory