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Symbol
Name
ID 		Atxn2
ataxin 2
MGI:1277223
Phenotype annotations related to nervous system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Hyposmia
Orthostatic hypotension due to autonomic dysfunction
Dysphagia
Oculomotor apraxia
Spasticity
Frequent falls
Gliosis
Substantia nigra gliosis
Dilated fourth ventricle
Cerebral cortical atrophy
Lewy bodies
Cerebellar atrophy
Olivopontocerebellar atrophy
Spinocerebellar tract degeneration
Neuronal loss in central nervous system
Ataxia
Dysdiadochokinesis
Dysmetria
Limb ataxia
Progressive cerebellar ataxia
Bradykinesia
Parkinsonism
Parkinsonism with favorable response to dopaminergic medication
Fasciculations
Myoclonus
Tremor
Action tremor
Postural tremor
Resting tremor
Babinski sign
Monotonic speech
Dysarthria
Depression
Low frustration tolerance
Schizophrenia
Hallucinations
Visual hallucination
Apathy
Personality changes
Impulsivity
Agitation
Mental deterioration
Dementia
Micrographia
Sleep abnormality
Hyporeflexia
Akinesia
Dyskinesia
Dystonia
Shuffling gait
Short stepped shuffling gait
Unsteady gait
Postural instability
Impaired vibratory sensation
Abnormal autonomic nervous system physiology
Disease(s) Associated with ATXN2
late onset Parkinson's disease
spinocerebellar ataxia type 2

Mouse Phenotypes
nervous system phenotype
abnormal Purkinje cell morphology
Availability Mouse Genotype
Atxn2tm1Plt/Atxn2tm1Plt *
Atxn2tm2.1Aub/Atxn2tm2.1Aub
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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Funding Information
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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory