Symbol
Name
ID

Fgfr3
fibroblast growth factor receptor 3
MGI:95524

Phenotype annotations related to hearing/vestibular/ear

!	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	Recurrent otitis media	Conductive hearing impairment	Abnormal pinna morphology	Low-set ears	Posteriorly rotated ears	Microtia	Cupped ear	Sensorineural hearing impairment	Hearing impairment
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

Availability

Mouse Genotype

Fgfr3^tm1.1Aomw/Fgfr3^tm1.1Aomw

Fgfr3^tm1Dor/Fgfr3^tm1Dor

Fgfr3^tm1.1Aomw/Fgfr3⁺

Fgfr3^tm1Llm/Fgfr3⁺

Contributing Projects: 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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