Symbol Name ID |
Tk2
thymidine kinase 2, mitochondrial MGI:1913266 |
* | 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 |
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 | ||||
Tk2tm1Anka/Tk2tm1Anka | |||||
Tk2tm1Mihi/Tk2tm1Mihi | * |
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 08/21/2024 MGI 6.24 |
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