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Symbol
Name
ID 		Prkn
parkin RBR E3 ubiquitin protein ligase
MGI:1355296
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
Spasticity
Substantia nigra gliosis
Cerebral atrophy
Lewy bodies
Gait ataxia
Bradykinesia
Parkinsonism
Tremor
Postural tremor
Resting tremor
Pill-rolling tremor
Babinski sign
Depression
Anxiety
Panic attack
Hallucinations
Apathy
Reduced social reciprocity
Impulsivity
Agitation
Restless legs
Cognitive impairment
Dementia
Frontal lobe dementia
Short attention span
Insomnia
Hyperreflexia
Hypokinesia
Dyskinesia
Dystonia
Focal dystonia
Gait disturbance
Gait imbalance
Loss of ambulation
Shuffling gait
Postural instability
Abnormal autonomic nervous system physiology
Disease(s) Associated with PRKN
Parkinson's disease
Parkinson's disease 2

Mouse Phenotypes
nervous system phenotype
increased neuron apoptosis
abnormal substantia nigra pars compacta morphology
decreased substantia nigra size
abnormal locus ceruleus morphology
hippocampal neuron degeneration
brain vacuoles
tau protein deposits
abnormal CNS glial cell morphology
abnormal neuron morphology
decreased dopaminergic neuron number
loss of dopaminergic neurons
neuron degeneration
abnormal nervous system electrophysiology
abnormal synaptic transmission
Availability Mouse Genotype
Prkntm1Ccs/Prkntm1Ccs *
Prkntm1Roo/Prkntm1Roo *
Prkntm1Rpa/Prkntm1Rpa *
Prkntm1Shn/Prkntm1Shn
Prkntm1Tmd/Prkntm1Tmd
Prkntm1Ykt/Prkntm1Ykt
Prkntm2Tmd/Prkntm2Tmd  (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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Funding Information
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Send questions and comments to User Support. 		last database update
04/30/2024
MGI 6.23 		The Jackson Laboratory