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Symbol Name ID |
Coq8a
coenzyme Q8A MGI:1914676 |
| Darker colors indicate more annotations |
| Human Phenotypes | Increased CSF lactate |
Focal T2 hypointense basal ganglia lesion |
Cerebellar atrophy |
Ataxia |
Progressive cerebellar ataxia |
Myoclonus |
Tremor |
Abnormal pyramidal sign |
Intellectual disability |
Intellectual disability, moderate |
Hyperreflexia |
Brisk reflexes |
Dystonia |
Developmental regression |
Neurodevelopmental delay |
Global developmental delay |
Seizure |
Generalized tonic seizure |
Epilepsia partialis continua |
| Disease(s) Associated with COQ8A | |||||||||||||||||||
| primary coenzyme Q10 deficiency 4 |
| Mouse Phenotypes | increased susceptibility to pharmacologically induced seizures |
environmentally induced seizures |
abnormal Purkinje cell morphology |
Purkinje cell degeneration |
abnormal nervous system electrophysiology |
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| Availability | Mouse Genotype | |||||
| Coq8atm1.1Ics/Coq8atm1.1Ics | ||||||
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 05/21/2024 MGI 6.23 |
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