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Symbol
Name
ID
Gjb2
gap junction protein, beta 2
MGI:95720
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Aganglionic megacolon
Photophobia
Cerebellar hypoplasia
Abnormality of the spinal cord
Hemiplegia/hemiparesis
Cognitive impairment
Intellectual disability
Reduced tendon reflexes
Self-injurious behavior
Severe global developmental delay
Disease(s) Associated with GJB2
autosomal dominant keratitis-ichthyosis-deafness syndrome
Vohwinkel syndrome

Mouse Phenotypes
abnormal cochlear inner hair cell morphology
abnormal inner hair cell synaptic ribbon morphology
cochlear outer hair cell degeneration
cochlear hair cell degeneration
abnormal hair cell physiology
cochlear ganglion degeneration
Availability Mouse Genotype
Gjb2tm1Ugds/Gjb2tm1Ugds
Tg(Otog-cre)1Ugds/0  (conditional)
Gjb2tm1Ugds/Gjb2tm1Ugds
Tg(Sox10-cre)1Wdr/0  (conditional)

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
11/05/2019
MGI 6.14
The Jackson Laboratory