Symbol Name ID |
Gjb1
gap junction protein, beta 1 MGI:95719 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Ataxia |
Tremor |
Abnormal nerve conduction velocity |
Dysarthria |
Language impairment |
Excessive daytime somnolence |
Areflexia |
Gait disturbance |
Sensory neuropathy |
Impaired pain sensation |
Disease(s) Associated with GJB1 | ||||||||||
Charcot-Marie-Tooth disease X-linked dominant 1 |
Mouse Phenotypes | nervous system phenotype |
abnormal nervous system morphology |
abnormal Schwann cell morphology |
abnormal axon morphology |
abnormal myelin sheath morphology |
abnormal myelination |
demyelination |
abnormal nerve conduction |
|
Availability | Mouse Genotype | ||||||||
Gjb1tm1Kwi/Gjb1tm1Kwi | * | ||||||||
Gjb1tm1Kwi/Gjb1+ | |||||||||
Gjb1tm1Kwi/Y | * |
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 06/12/2024 MGI 6.13 |
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