|
Symbol Name ID |
Espn
espin MGI:1861630 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Vestibular areflexia |
Sensorineural hearing impairment |
| Disease(s) Associated with ESPN | ||
| autosomal recessive nonsyndromic deafness 36 |
| Mouse Phenotypes | hearing/vestibular/ear phenotype |
abnormal inner ear morphology |
abnormal cochlear hair cell morphology |
abnormal cochlear hair cell stereociliary bundle morphology |
abnormal inner hair cell stereociliary bundle morphology |
abnormal outer hair cell stereociliary bundle morphology |
decreased cochlear hair cell stereocilia number |
short cochlear hair cell stereocilia |
thin cochlear hair cell stereocilia |
cochlear inner hair cell degeneration |
cochlear outer hair cell degeneration |
cochlear hair cell degeneration |
abnormal organ of Corti morphology |
pillar cell degeneration |
organ of Corti degeneration |
abnormal stria vascularis morphology |
abnormal tectorial membrane morphology |
detached tectorial membrane |
abnormal vestibular hair cell stereociliary bundle morphology |
thin vestibular hair cell stereocilia |
vestibular hair cell degeneration |
abnormal crista ampullaris neuroepithelium morphology |
abnormal inner ear vestibule morphology |
abnormal utricular macula morphology |
vestibular saccular macula degeneration |
abnormal otolithic membrane morphology |
abnormal ear physiology |
abnormal endocochlear potential |
absent cochlear microphonics |
abnormal hearing electrophysiology |
increased or absent threshold for auditory brainstem response |
absent cochlear nerve compound action potential |
deafness |
abnormal vestibular system physiology |
absent linear vestibular evoked potential |
reduced linear vestibular evoked potential |
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| Availability | Mouse Genotype | ||||||||||||||||||||||||||||||||||||
| Espnje/Espnje | |||||||||||||||||||||||||||||||||||||
| Espntm1Pgg/Espntm1Pgg | * | ||||||||||||||||||||||||||||||||||||
| Espnje/Espn+ | |||||||||||||||||||||||||||||||||||||
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 04/23/2024 MGI 6.23 |
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