|
Symbol Name ID |
Kcnq1
potassium voltage-gated channel, subfamily Q, member 1 MGI:108083 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Vertigo |
Congenital sensorineural hearing impairment |
Hearing abnormality |
| Disease(s) Associated with KCNQ1 | |||
| familial atrial fibrillation | |||
| Jervell-Lange Nielsen syndrome | |||
| long QT syndrome 1 |
| Mouse Phenotypes | hearing/vestibular/ear phenotype |
abnormal inner ear morphology |
abnormal cochlea morphology |
collapsed Reissner membrane |
abnormal basilar membrane morphology |
abnormal cochlear sensory epithelium morphology |
absent cochlear hair cells |
cochlear inner hair cell degeneration |
cochlear outer hair cell degeneration |
absent organ of Corti supporting cells |
organ of Corti degeneration |
abnormal stria vascularis morphology |
thin stria vascularis |
abnormal tectorial membrane morphology |
small scala media |
absent vestibular hair cells |
absent vestibular hair cell stereocilia |
abnormal inner ear canal morphology |
abnormal semicircular canal morphology |
abnormal crista ampullaris morphology |
abnormal crista ampullaris neuroepithelium morphology |
abnormal inner ear vestibule morphology |
abnormal utricle morphology |
utricular macular degeneration |
abnormal vestibular saccule morphology |
abnormal membranous labyrinth morphology |
abnormal vestibular labyrinth morphology |
abnormal otolith morphology |
detached otolithic membrane |
increased or absent threshold for auditory brainstem response |
absent distortion product otoacoustic emissions |
deafness |
syndromic hearing impairment |
|
| Availability | Mouse Genotype | |||||||||||||||||||||||||||||||||
| Kcnq1tm1Apf/Kcnq1tm1Apf | ||||||||||||||||||||||||||||||||||
| Kcnq1tm1Kpfe/Kcnq1tm1Kpfe | ||||||||||||||||||||||||||||||||||
| Kcnq1tm2Kpfe/Kcnq1tm2Kpfe | ||||||||||||||||||||||||||||||||||
| Kcnq1tm3Kpfe/Kcnq1tm3Kpfe | * | |||||||||||||||||||||||||||||||||
| Kcnq1vtg-2J/Kcnq1vtg-2J | ||||||||||||||||||||||||||||||||||
| Kcnq1vtg-3J/Kcnq1vtg-3J | ||||||||||||||||||||||||||||||||||
| Kcnq1vtg-4J/Kcnq1vtg-4J | ||||||||||||||||||||||||||||||||||
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 05/14/2024 MGI 6.23 |
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