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Symbol
Name
ID
Pank2
pantothenate kinase 2
MGI:1921700
Phenotype annotations related to nervous system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Blepharospasm
Eyelid apraxia
Dysphagia
Spasticity
Eye of the tiger anomaly of globus pallidus
Pallidal degeneration
Iron accumulation in substantia nigra
Cerebral degeneration
Global brain atrophy
Neurodegeneration
Ataxia
Slurred speech
Abnormality of extrapyramidal motor function
Bradykinesia
Parkinsonism
Choreoathetosis
Tremor
Intention tremor
Abnormal pyramidal sign
Babinski sign
Palilalia
Phonic tics
Abnormality of speech or vocalization
Tachylalia
Dysarthria
Speech articulation difficulties
Depression
Emotional lability
Psychotic mentation
Atypical behavior
Compulsive behaviors
Obsessive-compulsive trait
Tics
Motor tics
Hyperactivity
Attention deficit hyperactivity disorder
Impulsivity
Mental deterioration
Dementia
Intellectual disability
Hyperreflexia
Akinesia
Orofacial dyskinesia
Dystonia
Craniofacial dystonia
Limb dystonia
Leg dystonia
Gait disturbance
Loss of ambulation
Tip-toe gait
Bulbar signs
Global developmental delay
Motor delay
Seizure
Disease(s) Associated with PANK2
pantothenate kinase-associated neurodegeneration

Mouse Phenotypes
nervous system phenotype
abnormal retina rod cell inner segment morphology
abnormal retina rod cell outer segment morphology
Availability Mouse Genotype
Pank2tm1Jgt/Pank2tm1Jgt *

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