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Symbol
Name
ID
Mmut
methylmalonyl-Coenzyme A mutase
MGI:97239
Phenotype annotations related to homeostasis/metabolism
Darker colors indicate more annotations
Human Phenotypes
Methylmalonic acidemia
Hyperglycinemia
Hyperammonemia
Metabolic ketoacidosis
Dehydration
Methylmalonic aciduria
Disease(s) Associated with MMUT
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Mouse Phenotypes
abnormal circulating amino acid level
increased circulating carnitine level
increased circulating creatinine level
increased circulating glycine level
increased circulating ammonia level
abnormal blood homeostasis
acidemia
increased blood urea nitrogen level
decreased circulating bicarbonate level
dehydration
increased circulating chloride level
increased urine chloride ion level
increased urine potassium level
increased urine sodium level
abnormal fatty acid level
abnormal sphingolipid level
acidosis
metabolic acidosis
increased urine calcium level
increased urine magnesium level
aciduria
organic aciduria
methylmalonic aciduria
Availability Mouse Genotype
Mmuttm1.1Mrb/Mmuttm1.1Mrb
Mmuttm1Cpv/Mmuttm1Cpv
Mmuttm1Cpv/Mmuttm1Cpv
Tg(Alb-Mut)#Cpv/0
Mmuttm1Pai/Mmuttm1Pai
Mmuttm1Pai/Mmuttm1.1Mrb

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/24/2020
MGI 6.15
The Jackson Laboratory