Symbol Name ID |
Mmaa
methylmalonic aciduria (cobalamin deficiency) type A MGI:1923805 |
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 |
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Availability | Mouse Genotype | |||||
Mmaaem1(IMPC)J/Mmaaem1(IMPC)J |
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 04/23/2024 MGI 6.23 |
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