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Symbol
Name
ID
Gjb2
gap junction protein, beta 2
MGI:95720
Phenotype annotations related to hearing/vestibular/ear
!Indicates phenotype varies with strain background.
Darker colors indicate more annotations
Human Phenotypes
Sensorineural hearing impairment
Progressive sensorineural hearing impairment
Vestibular dysfunction
Dilatated internal auditory canal
Conductive hearing impairment
Stapes ankylosis
Hearing impairment
Disease(s) Associated with GJB2
autosomal dominant keratitis-ichthyosis-deafness syndrome
autosomal dominant nonsyndromic deafness 3A
autosomal recessive nonsyndromic deafness 1A
Bart-Pumphrey syndrome
palmoplantar keratoderma-deafness syndrome
sensorineural hearing loss
Vohwinkel syndrome

Mouse Phenotypes
abnormal cochlea morphology
abnormal cochlear inner hair cell morphology
abnormal inner hair cell synaptic ribbon morphology
cochlear outer hair cell degeneration
cochlear hair cell degeneration
degeneration of organ of Corti supporting cells
organ of Corti degeneration
abnormal interdental cell morphology
cochlear degeneration
abnormal ear physiology
abnormal cochlear endolymph ionic homeostasis
decreased endocochlear potential
abnormal hair cell physiology
increased or absent threshold for auditory brainstem response
impaired hearing
deafness
sensorineural hearing loss
Availability Mouse Genotype
Gjb2tm1Kkam/Gjb2tm1Kkam
Tg(Mpz-cre)94Imeg/0  (conditional)
Gjb2tm1Ugds/Gjb2tm1Ugds
Tg(Otog-cre)1Ugds/0  (conditional)
Gjb2tm1Ugds/Gjb2tm1Ugds
Tg(Sox10-cre)1Wdr/0  (conditional)
Gjb2tm2.2Kwi/Gjb2+
Tg(Pgk1-cre)1Lni/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
02/18/2020
MGI 6.14
The Jackson Laboratory