Symbol Name ID |
Twnk
twinkle mtDNA helicase MGI:2137410 |
Darker colors indicate more annotations |
Human Phenotypes | Microcephaly |
Dysphagia |
Elevated circulating follicle stimulating hormone level |
Elevated circulating luteinizing hormone level |
Increased circulating gonadotropin level |
Spastic diplegia |
Decreased number of large peripheral myelinated nerve fibers |
Sensory axonal neuropathy |
Atrophy/Degeneration affecting the brainstem |
Cerebral cortical atrophy |
Cerebral atrophy |
Cerebellar atrophy |
Cerebellar cortical atrophy |
Tarlov cyst |
Ataxia |
Gait ataxia |
Clumsiness |
Parkinsonism |
Athetosis |
Involuntary movements |
Intention tremor |
Babinski sign |
Reduced eye contact |
Dysarthria |
Depression |
Psychosis |
Cognitive impairment |
Dementia |
Intellectual disability |
Intellectual disability, mild |
Excessive daytime somnolence |
Areflexia |
Hyporeflexia |
Gait disturbance |
Loss of ambulation |
Encephalopathy |
Epileptic encephalopathy |
Migraine |
Global developmental delay |
Motor delay |
Specific learning disability |
Sensorimotor neuropathy |
Seizure |
Status epilepticus |
Epilepsia partialis continua |
Sensory ataxia |
Disease(s) Associated with TWNK | ||||||||||||||||||||||||||||||||||||||||||||||
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | ||||||||||||||||||||||||||||||||||||||||||||||
mitochondrial DNA depletion syndrome 7 | ||||||||||||||||||||||||||||||||||||||||||||||
Perrault syndrome |
Mouse Phenotypes | abnormal brain morphology |
decreased dopaminergic neuron number |
loss of dopaminergic neurons |
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Availability | Mouse Genotype | |||
Tg(ACTB-Twnk*)DSuom/0 | ||||
Tg(Th-Twnk*,-EGFP)2Gcor/0 |
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 08/02/2024 MGI 6.24 |
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