Symbol Name ID |
Pank2
pantothenate kinase 2 MGI:1921700 |
* | 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 | * |
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 |
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