|
Symbol Name ID |
Gjb6
gap junction protein, beta 6 MGI:107588 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Abnormal vestibular function |
Sensorineural hearing impairment |
Adult onset sensorineural hearing impairment |
Hearing impairment |
| Disease(s) Associated with GJB6 | ||||
| autosomal dominant nonsyndromic deafness 3B | ||||
| autosomal recessive nonsyndromic deafness 1A | ||||
| autosomal recessive nonsyndromic deafness 1B |
| Mouse Phenotypes | hearing/vestibular/ear phenotype |
abnormal stria vascularis vasculature morphology |
abnormal blood-inner ear barrier function |
cochlear inner hair cell degeneration |
cochlear outer hair cell degeneration |
cochlear hair cell degeneration |
organ of Corti degeneration |
abnormal stria vascularis morphology |
abnormal cochlear endolymph ionic homeostasis |
absent endocochlear potential |
decreased endocochlear potential |
abnormal hair cell physiology |
decreased threshold for auditory brainstem response |
increased or absent threshold for auditory brainstem response |
abnormal cochlear potential |
impaired hearing |
deafness |
sensorineural hearing loss |
|
| Availability | Mouse Genotype | ||||||||||||||||||
| Gjb6tm1.1Fama/Gjb6tm1.1Fama | |||||||||||||||||||
| Gjb6tm1.1Mcsa/Gjb6tm1.1Mcsa | * | ||||||||||||||||||
| Gjb6tm1Kwi/Gjb6tm1Kwi | |||||||||||||||||||
| Gjb6tm2.2Kwi/Gjb6tm2.2Kwi | |||||||||||||||||||
| Gjb6tm1.1Fama/Gjb6+ | * | ||||||||||||||||||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 04/16/2024 MGI 6.23 |
|
|
|
||
Analysis Tools