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thymidine kinase 2, mitochondrial
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 palsy
Facial diplegia
Scapular winging
Limb muscle weakness
Muscular hypotonia
Generalized hypotonia
EMG: myopathic abnormalities
Difficulty standing
Difficulty walking
Exercise intolerance
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
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
Availability Mouse Genotype
Tk2tm1Mihi/Tk2tm1Mihi *

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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last database update
MGI 6.15
The Jackson Laboratory