|
Symbol Name ID |
Tor1a
torsin family 1, member A (torsin A) MGI:1353568 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Facial palsy |
Blepharospasm |
Torticollis |
Absent Achilles reflex |
Dysphagia |
Cerebellar atrophy |
Tremor |
Hand tremor |
Babinski sign |
Absent speech |
Delayed speech and language development |
Dysarthria |
Depression |
Intellectual disability, moderate |
Intellectual disability, severe |
Abnormal posturing |
Hyperreflexia |
Akinesia |
Dystonia |
Oromandibular dystonia |
Writer's cramp |
Generalized dystonia |
Torsion dystonia |
Inability to walk |
Global developmental delay |
Motor delay |
| Disease(s) Associated with TOR1A | |||||||||||||||||||||||||||
| arthrogryposis multiplex congenita-5 | |||||||||||||||||||||||||||
| torsion dystonia 1 |
| Mouse Phenotypes | nervous system phenotype |
abnormal brain morphology |
abnormal brain interneuron morphology |
decreased brain size |
enlarged lateral ventricles |
abnormal brain white matter morphology |
abnormal red nucleus morphology |
absent red nucleus |
abnormal pons morphology |
abnormal dorsal striatum morphology |
thin cerebral cortex |
abnormal Purkinje cell dendrite morphology |
ectopic Purkinje cell |
abnormal cerebellum vermis morphology |
abnormal cerebellum deep nucleus morphology |
enlarged cerebellum |
gliosis |
abnormal Purkinje cell innervation |
abnormal CNS synapse formation |
abnormal nervous system tract morphology |
abnormal neuron morphology |
decreased neuron number |
neuron degeneration |
abnormal facial nerve morphology |
abnormal spinal cord morphology |
neurodegeneration |
abnormal neuron physiology |
reduced long-term depression |
|
| Availability | Mouse Genotype | ||||||||||||||||||||||||||||
| Tor1atm1Calak/Tor1atm1Calak | |||||||||||||||||||||||||||||
| Tor1atm1Wtd/Tor1atm1Wtd | |||||||||||||||||||||||||||||
| Tor1atm2Wtd/Tor1atm2Wtd | |||||||||||||||||||||||||||||
| Tor1atm4.2Wtd/Tor1atm4.2Wtd | |||||||||||||||||||||||||||||
| Tor1atm1Wtd/Tor1a+ | |||||||||||||||||||||||||||||
| Tor1atm2Wtd/Tor1a+ | |||||||||||||||||||||||||||||
| Tor1atm2Wtd/Tor1atm4.2Wtd | |||||||||||||||||||||||||||||
| Emx1tm1(cre)Yql/Emx1+ Tor1atm2Yql/Tor1atm2Yql (conditional) |
* | ||||||||||||||||||||||||||||
| Tor1atm1Wtd/Tor1atm3.1Wtd Emx1tm1(cre)Krj/Emx1+ (conditional) |
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| Tor1atm2Wtd/Tor1atm3.1Wtd Emx1tm1(cre)Krj/Emx1+ (conditional) |
* | ||||||||||||||||||||||||||||
| En1tm2(cre)Wrst/En1+ Tor1atm1Wtd/Tor1atm3.1Wtd (conditional) |
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| En1tm2(cre)Wrst/En1+ Tor1atm2Wtd/Tor1atm3.1Wtd (conditional) |
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| Tor1atm1Wtd/Tor1atm3.1Wtd Tg(Nes-cre)1Kln/0 (conditional) |
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| Tor1atm1Wtd/Tor1atm3.1Wtd Tg(dlx5a-cre)1Mekk/0 (conditional) |
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| Tor1atm2Wtd/Tor1atm3.1Wtd Tg(Nes-cre)1Kln/0 (conditional) |
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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 04/23/2024 MGI 6.23 |
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