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Symbol
Name
ID
Gjc2
gap junction protein, gamma 2
MGI:2153060
Phenotype annotations related to nervous system
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
Availability Mouse Genotype
Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Gjc2tm2.1Kwi/Gjc2tm2.1Kwi
Gjc2tm2.1Kwi/Gjc2+

Contributing Projects:
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
The Jackson Laboratory