Symbol Name ID |
Gjc2
gap junction protein, gamma 2 MGI:2153060 |
Darker colors indicate more annotations |
Human Phenotypes | Facial palsy |
Abnormality of visual evoked potentials |
Lower limb spasticity |
Spastic paraparesis |
Spastic paraplegia |
Upper limb spasticity |
Progressive spasticity |
Spastic gait |
Difficulty walking |
CNS hypomyelination |
Cerebral hypomyelination |
Leukodystrophy |
Demyelinating motor neuropathy |
Sensory axonal neuropathy |
Hypoplasia of the corpus callosum |
Cerebral atrophy |
Ataxia |
Dysmetria |
Choreoathetosis |
Intention tremor |
Head titubation |
Babinski sign |
Abnormal auditory evoked potentials |
Abnormal motor evoked potentials |
Abnormality of somatosensory evoked potentials |
Decreased motor nerve conduction velocity |
Dysarthria |
Poor speech |
Cognitive impairment |
Hyperreflexia |
Dystonia |
Global developmental delay |
Motor delay |
Delayed gross motor development |
Seizure |
Focal impaired awareness seizure |
Focal aware seizure |
Somatic sensory dysfunction |
Distal sensory impairment |
Disease(s) Associated with GJC2 | |||||||||||||||||||||||||||||||||||||||
hereditary spastic paraplegia 44 | |||||||||||||||||||||||||||||||||||||||
hypomyelinating leukodystrophy 2 |
Mouse Phenotypes | microgliosis |
abnormal brain morphology |
abnormal brain white matter morphology |
abnormal cerebellum white matter morphology |
abnormal cerebellum morphology |
Purkinje cell degeneration |
astrocytosis |
increased oligodendrocyte number |
neurodegeneration |
abnormal oligodendrocyte physiology |
abnormal myelination |
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Availability | Mouse Genotype | |||||||||||
Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi | ||||||||||||
Gjc2tm2.1Kwi/Gjc2tm2.1Kwi | ||||||||||||
Gjc2tm2.1Kwi/Gjc2+ |
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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