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Symbol
Name
ID

Mmachc
methylmalonic aciduria cblC type, with homocystinuria
MGI:1914346

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Microcephaly

Hydrocephalus

Cerebral cortical atrophy

Abnormality of extrapyramidal motor function

Tremor

Lethargy

Confusion

Delirium

Dementia

Intellectual disability

Global developmental delay

Seizure

Disease(s) Associated with MMACHC

methylmalonic aciduria and homocystinuria type cblC

Mouse Phenotypes		nervous system phenotype	exencephaly	abnormal spinal cord morphology
Availability	Mouse Genotype	nervous system phenotype	exencephaly	abnormal spinal cord morphology
	Mmachc^{tm1.1(NCOM)Mfgc}/Mmachc^{tm1.1(NCOM)Mfgc}
	Mmachc^{tm1.1(NCOM)Mfgc}/Mmachc^{tm1.1(NCOM)Mfgc} Tg(CAG-Mmachc,-GFP)1Poche/0	*

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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