About   Help   FAQ
Symbol
Name
ID
Mmaa
methylmalonic aciduria (cobalamin deficiency) type A
MGI:1923805
Phenotype annotations related to homeostasis/metabolism
Darker colors indicate more annotations
Human Phenotypes
Hyperglycinemia
Methylmalonic acidemia
Hyperammonemia
Decreased methylmalonyl-CoA mutase activity
Elevated serum anion gap
Metabolic acidosis
Dehydration
Abnormal circulating vitamin B12 concentration
Decreased circulating adenosylcobalamin concentration
Methylmalonic aciduria
Elevated urine 2-methylcitric acid level
Elevated urine 3-hydroxypropionic acid level
Ketonuria
Ketosis
Disease(s) Associated with MMAA
methylmalonic acidemia cblA type

Mouse Phenotypes
increased circulating bilirubin level
decreased circulating calcium level
increased circulating alanine transaminase level
increased circulating alkaline phosphatase level
decreased circulating total protein level
Availability Mouse Genotype
Mmaaem1(IMPC)J/Mmaaem1(IMPC)J

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
04/23/2024
MGI 6.23
The Jackson Laboratory