|
Symbol Name ID |
Eya1
EYA transcriptional coactivator and phosphatase 1 MGI:109344 |
| ! | Indicates phenotype varies with strain background. |
| Darker colors indicate more annotations |
| Human Phenotypes | Hypoplasia of the cochlea |
Incomplete partition of the cochlea type II |
Enlarged vestibular aqueduct |
Dilatated internal auditory canal |
Cholesteatoma |
Conductive hearing impairment |
Mixed hearing impairment |
Stenosis of the external auditory canal |
Microtia |
Cupped ear |
Sensorineural hearing impairment |
| Disease(s) Associated with EYA1 | |||||||||||
| branchiootorenal syndrome 1 |
| Mouse Phenotypes | increased otic epithelial cell apoptosis |
decreased otic epithelial cell proliferation |
abnormal middle ear ossicle morphology |
abnormal incus morphology |
absent malleus processus brevis |
abnormal stapes morphology |
absent stapes |
fusion of middle ear ossicles |
abnormal external auditory canal morphology |
absent external auditory canal |
absent outer ear |
anotia |
absent auditory bulla |
abnormal otic vesicle development |
small otic vesicle |
abnormal inner ear morphology |
abnormal cochlea morphology |
abnormal cochlear hair cell morphology |
decreased cochlear inner hair cell number |
decreased cochlear outer hair cell number |
increased cochlear inner hair cell number |
increased cochlear outer hair cell number |
abnormal orientation of cochlear hair cell stereociliary bundles |
decreased outer hair cell stereocilia number |
absent organ of Corti |
absent cochlea |
decreased cochlea coiling |
decreased vestibular hair cell number |
abnormal semicircular canal morphology |
abnormal common crus morphology |
abnormal lateral semicircular canal morphology |
absent lateral semicircular canal |
decreased lateral semicircular canal size |
abnormal posterior semicircular canal morphology |
absent posterior semicircular canal |
decreased posterior semicircular canal size |
abnormal semicircular canal ampulla morphology |
decreased superior semicircular canal size |
abnormal utricle morphology |
abnormal vestibular saccule morphology |
absent vestibular saccule |
absent inner ear vestibule |
abnormal vestibular labyrinth morphology |
abnormal endolymphatic duct morphology |
absent endolymphatic duct |
short endolymphatic duct |
absent inner ear |
absent tympanic cavity |
abnormal tympanic membrane morphology |
decreased tympanic ring size |
increased or absent threshold for auditory brainstem response |
conductive hearing loss |
deafness |
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| Availability | Mouse Genotype | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eya1bor/Eya1bor | ! | ! | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eya1tm1Rilm/Eya1tm1Rilm | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eya1bor/Eya1tm1Rilm | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eya1tm1Rilm/Eya1+ | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eya1tm2Px/Eya1tm2Px Tg(Atoh1-cre/Esr1*)14Fsh/0 (conditional) |
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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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