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Symbol
Name
ID
Gjb1
gap junction protein, beta 1
MGI:95719
Phenotype annotations related to nervous system
*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 *

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
06/12/2024
MGI 6.13
The Jackson Laboratory