|
Symbol Name ID |
Opa1
OPA1, mitochondrial dynamin like GTPase MGI:1921393 |
| Darker colors indicate more annotations |
| Human Phenotypes | Increased CSF lactate |
Dysphagia |
Abnormal amplitude of pattern reversal visual evoked potentials |
Spasticity |
Spastic paraplegia |
Opisthotonus |
Progressive spasticity |
Frequent falls |
Basal ganglia calcification |
Sensory axonal neuropathy |
Atrophy/Degeneration affecting the brainstem |
Corpus callosum atrophy |
Abnormal periventricular white matter morphology |
Periventricular leukomalacia |
Cerebellar vermis atrophy |
Cerebellar atrophy |
Ataxia |
Dysmetria |
Truncal ataxia |
Tremor |
Babinski sign |
Hemiparesis |
Abnormal auditory evoked potentials |
Dysarthria |
Hallucinations |
Cognitive impairment |
Dementia |
Intellectual disability |
Hyperreflexia |
Areflexia |
Gait disturbance |
Unsteady gait |
Migraine |
Global developmental delay |
Profound global developmental delay |
Motor delay |
Peripheral neuropathy |
Polyneuropathy |
Sensorimotor neuropathy |
Seizure |
| Disease(s) Associated with OPA1 | ||||||||||||||||||||||||||||||||||||||||
| Behr syndrome | ||||||||||||||||||||||||||||||||||||||||
| dominant optic atrophy plus syndrome | ||||||||||||||||||||||||||||||||||||||||
| mitochondrial DNA depletion syndrome 14 | ||||||||||||||||||||||||||||||||||||||||
| optic atrophy | ||||||||||||||||||||||||||||||||||||||||
| optic atrophy 1 |
| Mouse Phenotypes | abnormal neural tube morphology |
abnormal neural tube closure |
abnormal forebrain development |
dilated fourth ventricle |
abnormal lateral ventricle morphology |
dilated lateral ventricle |
abnormal cerebellum morphology |
cerebellum atrophy |
gliosis |
exencephaly |
decreased retina ganglion cell number |
abnormal retina ganglion cell morphology |
retina ganglion cell degeneration |
abnormal optic nerve morphology |
abnormal optic disk morphology |
abnormal sciatic nerve morphology |
axon degeneration |
demyelination |
decreased prepulse inhibition |
|
| Availability | Mouse Genotype | |||||||||||||||||||
| Opa1em1(IMPC)Bay/Opa1em1(IMPC)Bay | ||||||||||||||||||||
| Opa1lilr3/Opa1lilr3 | ||||||||||||||||||||
| Opa1Q285X/Opa1Q285X | ||||||||||||||||||||
| Opa1em1(IMPC)Bay/Opa1+ | ||||||||||||||||||||
| Opa1M1Bewi/Opa1+ | ||||||||||||||||||||
| Opa1Q285X/Opa1+ | ||||||||||||||||||||
| Opa1tm1.1Geno/Opa1+ | ||||||||||||||||||||
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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