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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	Hyperglycinemia	Methylmalonic acidemia	Hyperammonemia	Hypoglycemia	Metabolic ketoacidosis	Episodic metabolic acidosis	Dehydration	Abnormal circulating vitamin B12 concentration	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 circulating methylmalonic acid level

increased blood urea nitrogen level

decreased circulating bicarbonate level

increased circulating lipocalin 2 level

dehydration

increased circulating chloride level

increased urine chloride ion level

increased urine potassium level

increased urine sodium level

abnormal fatty acids level

abnormal sphingolipid level

acidosis

metabolic acidosis

increased lipocalin 2 level

increased urine calcium level

increased urine magnesium level

aciduria

organic aciduria

methylmalonic aciduria

Availability

Mouse Genotype

Mmut^em1Cpv/Mmut^em1Cpv

Mmut^em2Cpv/Mmut^em2Cpv

Mmut^tm1.1Mrb/Mmut^tm1.1Mrb

Mmut^tm1Cpv/Mmut^tm1Cpv

Mmut^tm1Cpv/Mmut^tm1Cpv
Tg(Alb-Mut)#Cpv/0

Mmut^tm1Pai/Mmut^tm1Pai

Mmut^tm1Pai/Mmut^tm1.1Mrb

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23