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Symbol
Name
ID
Ppargc1a
peroxisome proliferative activated receptor, gamma, coactivator 1 alpha
MGI:1342774
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Hyposmia
Dysphagia
Spasticity
Fatigable weakness of bulbar muscles
Fatigable weakness of swallowing muscles
Fatigable weakness of respiratory muscles
Gliosis
Motor neuron atrophy
Amyotrophic lateral sclerosis
Cerebellar atrophy
Neurodegeneration
Neuronal loss in central nervous system
Gait ataxia
Bradykinesia
Chorea
Fasciculations
Tremor
Paralysis
Babinski sign
Dysarthria
Language impairment
Depression
Emotional lability
Anxiety
Panic attack
Hallucinations
Atypical behavior
Apathy
Reduced social reciprocity
Personality changes
Impulsivity
Agitation
Restless legs
Cognitive impairment
Dementia
Frontal lobe dementia
Frontotemporal dementia
Short attention span
Sleep abnormality
Insomnia
Hyperreflexia
Jaw hyperreflexia
Dyskinesia
Dystonia
Gait imbalance
Postural instability
Seizure
Abnormal autonomic nervous system physiology
Disease(s) Associated with PPARGC1A
amyotrophic lateral sclerosis
Huntington's disease
Parkinson's disease

Mouse Phenotypes
myoclonus
abnormal brainstem morphology
abnormal substantia nigra morphology
abnormal basal ganglion morphology
abnormal hippocampus morphology
abnormal cerebral cortex morphology
abnormal cerebellum morphology
gliosis
abnormal neuron morphology
decreased dopaminergic neuron number
short photoreceptor inner segment
short photoreceptor outer segment
retina photoreceptor degeneration
neurodegeneration
spongiform encephalopathy
Availability Mouse Genotype
Ppargc1atm1Brsp/Ppargc1atm1Brsp
Ppargc1atm1Dpk/Ppargc1atm1Dpk
Ppargc1atm1Brsp/Ppargc1a+
Ppargc1atm2.1Brsp/Ppargc1atm2.1Brsp  (conditional)

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
04/23/2024
MGI 6.23
The Jackson Laboratory