Symbol Name ID |
Fgfr3
fibroblast growth factor receptor 3 MGI:95524 |
! | Indicates phenotype varies with strain background. |
Darker colors indicate more annotations |
Human Phenotypes | Recurrent otitis media |
Conductive hearing impairment |
Abnormal pinna morphology |
Low-set ears |
Posteriorly rotated ears |
Microtia |
Cupped ear |
Sensorineural hearing impairment |
Hearing impairment |
Disease(s) Associated with FGFR3 | |||||||||
achondroplasia | |||||||||
camptodactyly-tall stature-scoliosis-hearing loss syndrome | |||||||||
craniosynostosis | |||||||||
Crouzon syndrome-acanthosis nigricans syndrome | |||||||||
lacrimoauriculodentodigital syndrome 2 | |||||||||
Muenke Syndrome | |||||||||
SADDAN | |||||||||
thanatophoric dysplasia |
Mouse Phenotypes | abnormal organ of Corti supporting cell differentiation |
abnormal pillar cell differentiation |
abnormal middle ear ossicle morphology |
abnormal incus morphology |
abnormal malleus morphology |
abnormal stapes morphology |
abnormal cochlea morphology |
abnormal cochlear sensory epithelium morphology |
abnormal cochlear hair cell morphology |
increased cochlear outer hair cell number |
abnormal cochlear outer hair cell morphology |
abnormal cochlear OHC efferent innervation pattern |
abnormal organ of Corti morphology |
abnormal Deiters cell morphology |
increased Deiters cell number |
abnormal pillar cell morphology |
absent pillar cells |
abnormal patterning of the organ of Corti |
absent tunnel of Corti |
increased or absent threshold for auditory brainstem response |
impaired hearing |
deafness |
sensorineural hearing loss |
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Availability | Mouse Genotype | |||||||||||||||||||||||
Fgfr3tm1.1Aomw/Fgfr3tm1.1Aomw | ! | |||||||||||||||||||||||
Fgfr3tm1Dor/Fgfr3tm1Dor | ! | |||||||||||||||||||||||
Fgfr3tm1.1Aomw/Fgfr3+ | ! | |||||||||||||||||||||||
Fgfr3tm1Llm/Fgfr3+ |
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 09/03/2024 MGI 6.24 |
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