|
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 | Absent Achilles reflex |
Dysphagia |
Difficulty walking |
Frequent falls |
Decreased number of peripheral myelinated nerve fibers |
Onion bulb formation |
Peripheral axonal degeneration |
Axonal degeneration |
Abnormal cerebral white matter morphology |
Cerebellar atrophy |
Ataxia |
Dysmetria |
Incoordination |
Tremor |
Hand tremor |
Babinski sign |
Paraparesis |
Abnormal nerve conduction velocity |
Decreased motor nerve conduction velocity |
Expressive aphasia |
Dysarthria |
Language impairment |
Excessive daytime somnolence |
Lower limb hyperreflexia |
Areflexia |
Hyporeflexia |
Gait disturbance |
Tip-toe gait |
Motor delay |
Peripheral neuropathy |
Sensory neuropathy |
Impaired pain sensation |
Distal sensory impairment |
| 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 05/28/2024 MGI 6.13 |
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