Symbol
Name
ID

C9orf72
C9orf72, member of C9orf72-SMCR8 complex
MGI:1920455

Phenotype annotations related to nervous system

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

Human Phenotypes

Gliosis

Abnormal lower motor neuron morphology

Amyotrophic lateral sclerosis

Cerebral atrophy

Neuronal loss in central nervous system

Extrapyramidal dyskinesia

Parkinsonism

Apraxia

Paraparesis

Tetraparesis

Dysarthria

Depression

Delusion

Hallucinations

Apathy

Dementia

Frontotemporal dementia

Dyscalculia

Disease(s) Associated with C9orf72

frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Mouse Phenotypes		nervous system phenotype	abnormal microglial cell physiology	brain inflammation	abnormal spinal cord grey matter morphology	abnormal spinal cord white matter morphology
Availability	Mouse Genotype	nervous system phenotype	abnormal microglial cell physiology	brain inflammation	abnormal spinal cord grey matter morphology	abnormal spinal cord white matter morphology
	C9orf72^em5Lutzy/C9orf72^em5Lutzy	*
	C9orf72^tm1.1Eggn/C9orf72^tm1.1Eggn	*

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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