Symbol
Name
ID

Tk2
thymidine kinase 2, mitochondrial
MGI:1913266

Phenotype annotations related to muscle

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

Human Phenotypes

Weakness of facial musculature

Facial diplegia

Scapular winging

Limb muscle weakness

Hypotonia

Generalized hypotonia

EMG: myopathic abnormalities

Difficulty standing

Difficulty walking

Cytochrome C oxidase-negative muscle fibers

Depletion of mitochondrial DNA in muscle tissue

Mitochondrial myopathy

Muscle weakness

Bulbar palsy

Distal muscle weakness

Generalized muscle weakness

Progressive proximal muscle weakness

Proximal muscle weakness

Gowers sign

Respiratory insufficiency due to muscle weakness

Ragged-red muscle fibers

Skeletal muscle atrophy

Generalized amyotrophy

Spinal muscular atrophy

Myopathy

Disease(s) Associated with TK2

autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3

mitochondrial DNA depletion syndrome 2

Mouse Phenotypes		muscle phenotype	abnormal myocardial fiber morphology	decreased myocardial fiber mitochondrial DNA content	decreased muscle fiber mitochondrial DNA content
Availability	Mouse Genotype	muscle phenotype	abnormal myocardial fiber morphology	decreased myocardial fiber mitochondrial DNA content	decreased muscle fiber mitochondrial DNA content
	Tk2^tm1Anka/Tk2^tm1Anka
	Tk2^tm1Mihi/Tk2^tm1Mihi	*

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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