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Human Disease and Mouse Model Detail
Human Disease Methylmalonic Aciduria and Homocystinuria, CblC Type
OMIM ID: 277400
Synonyms Methylmalonic Acidemia and Homocystinuria, Cblc Type; Methylmalonic Aciduria and Homocystinuria; Methylmalonic Aciduria and Homocystinuria, Vitamin B12-Responsive; Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-Coa Mutase and Homocysteine:methyltetrahydrofolate Methyltransferase
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
     Mmachc MMACHC*   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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last database update
11/18/2014
MGI 5.20
The Jackson Laboratory