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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	Dandy-Walker malformation	Photophobia	Cerebellar vermis hypoplasia	Abnormal spinal cord morphology	Self-injurious behavior	Cognitive impairment	Neurodevelopmental delay	Peripheral neuropathy
Disease(s) Associated with GJB2	Dandy-Walker malformation	Photophobia	Cerebellar vermis hypoplasia	Abnormal spinal cord morphology	Self-injurious behavior	Cognitive impairment	Neurodevelopmental delay	Peripheral neuropathy
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	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
	Gjb2^tm1Ugds/Gjb2^tm1Ugds Tg(Otog-cre)1Ugds/0 (conditional)
	Gjb2^tm1Ugds/Gjb2^tm1Ugds 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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