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Symbol
Name
ID
Mmachc
methylmalonic aciduria cblC type, with homocystinuria
MGI:1914346
Phenotype annotations related to cardiovascular system
Darker colors indicate more annotations
Human Phenotypes
Hypotension
Pulmonary arterial hypertension
Bradycardia
Cardiac arrest
Tachycardia
Disease(s) Associated with MMACHC
methylmalonic aciduria and homocystinuria type cblC

Mouse Phenotypes
ventricular septal defect
heart right ventricle hypoplasia
abnormal heart ventricle morphology
Availability Mouse Genotype
Mmachcem1.1Poche/Mmachcem1.1Poche
Mmachctm1.1(NCOM)Mfgc/Mmachctm1.1(NCOM)Mfgc

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
04/16/2024
MGI 6.23
The Jackson Laboratory