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Symbol
Name
ID

Slc26a4
solute carrier family 26, member 4
MGI:1346029

Phenotype annotations related to hearing/vestibular/ear

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes	Abnormality of the inner ear	Hypoplasia of the cochlea	Cochlear malformation	Incomplete partition of the cochlea type II	Enlarged vestibular aqueduct	Abnormal vestibular function	Vertigo	Sensorineural hearing impairment	Congenital sensorineural hearing impairment
Disease(s) Associated with SLC26A4	Abnormality of the inner ear	Hypoplasia of the cochlea	Cochlear malformation	Incomplete partition of the cochlea type II	Enlarged vestibular aqueduct	Abnormal vestibular function	Vertigo	Sensorineural hearing impairment	Congenital sensorineural hearing impairment
autosomal recessive nonsyndromic deafness 4
Pendred Syndrome

Mouse Phenotypes

hearing/vestibular/ear phenotype

abnormal vestibular aqueduct morphology

abnormal inner ear morphology

abnormal cochlea morphology

distended Reissner membrane

dilated cochlea

abnormal cochlear sensory epithelium morphology

decreased cochlear hair cell number

absent cochlear hair cells

abnormal cochlear hair cell stereociliary bundle morphology

fused inner hair cell stereocilia

cochlear inner hair cell degeneration

cochlear outer hair cell degeneration

cochlear hair cell degeneration

abnormal scala media morphology

abnormal organ of Corti morphology

organ of Corti degeneration

type I spiral ligament fibrocyte degeneration

type II spiral ligament fibrocyte degeneration

thin spiral ligament

abnormal stria vascularis morphology

abnormal strial basal cell morphology

abnormal strial intermediate cell morphology

abnormal strial marginal cell morphology

stria vascularis degeneration

thin stria vascularis

abnormal tectorial membrane morphology

enlarged tectorial membrane

dilated scala media

small scala tympani

abnormal spiral limbus morphology

decreased cochlea coiling

abnormal hair cell morphology

decreased vestibular hair cell number

vestibular hair cell degeneration

abnormal semicircular canal morphology

abnormal crista ampullaris morphology

abnormal inner ear vestibule morphology

abnormal utricle morphology

utricular macular degeneration

abnormal vestibular saccule morphology

vestibular saccular macula degeneration

enlarged vestibular saccule

abnormal endolymphatic duct morphology

dilated endolymphatic duct

dilated endolymphatic sac

abnormal otolithic membrane morphology

abnormal otolith morphology

decreased otolith number

absent otoliths

enlarged otoliths

detached otolithic membrane

abnormal cochlear endolymph ionic homeostasis

absent endocochlear potential

decreased endocochlear potential

abnormal vestibular endolymph physiology

abnormal vestibular endolymph ionic homeostasis

increased or absent threshold for auditory brainstem response

impaired hearing

deafness

nonsyndromic hearing loss

sensorineural hearing loss

abnormal vestibular system physiology

Availability

Mouse Genotype

Slc26a4^em1Jgao/Slc26a4^em1Jgao

Slc26a4^loop/Slc26a4^loop

Slc26a4^m1Btlr/Slc26a4^m1Btlr

Slc26a4^pdsm/Slc26a4^pdsm

Slc26a4^tm1.1Dontu/Slc26a4^tm1.1Dontu

Slc26a4^tm1Egr/Slc26a4^tm1Egr

Slc26a4^tm2.1Dontu/Slc26a4^tm2.1Dontu

*

Slc26a4^tm1.1Dontu/Slc26a4^tm2.1Dontu

*

Slc26a4^tm1Egr/Slc26a4⁺

*

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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