Symbol
Name
ID

Twnk
twinkle mtDNA helicase
MGI:2137410

Phenotype annotations related to muscle

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Limb muscle weakness

Spastic diplegia

Hypotonia

EMG: myopathic abnormalities

Cytochrome C oxidase-negative muscle fibers

Multiple mitochondrial DNA deletions

Subsarcolemmal accumulations of abnormally shaped mitochondria

Muscle weakness

Progressive muscle weakness

Proximal muscle weakness

Fiber type grouping

Ragged-red muscle fibers

Distal amyotrophy

Disease(s) Associated with TWNK

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3

mitochondrial DNA depletion syndrome 7

Perrault syndrome

Mouse Phenotypes		muscle phenotype	abnormal muscle fiber morphology
Availability	Mouse Genotype	muscle phenotype	abnormal muscle fiber morphology
	Tg(ACTB-Twnk*)DSuom/0	*
	Tg(ACTB-Twnk*A360T)HSuom/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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