Symbol
Name
ID

Twnk
twinkle mtDNA helicase
MGI:2137410

Phenotype annotations related to nervous system

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
Availability	Mouse Genotype	abnormal brain morphology	decreased dopaminergic neuron number	loss of dopaminergic neurons
	Tg(ACTB-Twnk*)DSuom/0
	Tg(Th-Twnk*,-EGFP)2Gcor/0

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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