Symbol Name ID |
Gjb2
gap junction protein, beta 2 MGI:95720 |
! | Indicates phenotype varies with strain background. |
Darker colors indicate more annotations |
Human Phenotypes | Abnormal vestibular function |
Sensorineural hearing impairment |
Prelingual sensorineural hearing impairment |
Severe sensorineural hearing impairment |
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 | |||||
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 |
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Availability | Mouse Genotype | |||||||||||||||||
Gjb2tm1Kkam/Gjb2tm1Kkam Tg(Mpz-cre)94Imeg/0 (conditional) |
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Gjb2tm1Ugds/Gjb2tm1Ugds Tg(Otog-cre)1Ugds/0 (conditional) |
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Gjb2tm1Ugds/Gjb2tm1Ugds Tg(Sox10-cre)1Wdr/0 (conditional) |
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Gjb2tm2.2Kwi/Gjb2+ Tg(Pgk1-cre)1Lni/0 (conditional) |
! | ! |
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 04/16/2024 MGI 6.23 |
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