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Symbol
Name
ID
Mmut
methylmalonyl-Coenzyme A mutase
MGI:97239
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Cerebellar hemorrhage
Delayed CNS myelination
Abnormal globus pallidus morphology
Ataxia
Choreoathetosis
Paraparesis
Tetraparesis
Abnormality of speech or vocalization
Lethargy
Intellectual disability
Coma
Global developmental delay
Seizure
Disease(s) Associated with MMUT
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Mouse Phenotypes
abnormal brain morphology
increased brain weight
Availability Mouse Genotype
Mmuttm1Cpv/Mmuttm1Cpv
Mmuttm1Cpv/Mmuttm1Cpv
Tg(Alb-Mut)#Cpv/0
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
04/16/2024
MGI 6.23
The Jackson Laboratory