Phenotypes Associated with This Genotype

Genotype
MGI:5293424

• Allelic Composition: Slc26a4^tm1.1Dontu/Slc26a4^tm1.1Dontu
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Structural aberrations of the vestibular aqueduct and endolymphatic sac in Slc26a4^tm1.1Dontu/Slc26a4^tm1.1Dontu mice

hearing/vestibular/ear

abnormal vestibular aqueduct morphology ( J:175861 )

• enlarged orifice

abnormal strial marginal cell morphology ( J:175861 )

• marginal cells exhibit diminished membrane invaginations with vacuolization changes or interstitial edema

stria vascularis degeneration ( J:175861 )

• atrophy

dilated scala media ( J:175861 )

• enlarged

abnormal hair cell morphology ( J:175861 )

• at 8 weeks, mice exhibit a wide spectrum of hair cell loss and degeneration in the saccule and semicircular canals unlike wild-type mice

• hair cells in the utricle are more affected than those in the saccule and semicircular canals

cochlear hair cell degeneration ( J:175861 )

• inner and outer hair cells

cochlear inner hair cell degeneration ( J:175861 )

cochlear outer hair cell degeneration ( J:175861 )

decreased vestibular hair cell number ( J:175861 )

• loss of utricular hair cells is more significant in circling mice than non-circling mice

vestibular hair cell degeneration ( J:175861 )

dilated endolymphatic duct ( J:175861 )

• severe

dilated endolymphatic sac ( J:175861 )

• enlarged fovea of the endolymphatic sac

abnormal otolith morphology ( J:175861 )

• ectopic distribution in the semicircular canal

decreased otolith number ( J:175861 )

• in the utricle and saccule

enlarged otoliths ( J:175861 )

• giant otoconia in the utricle and saccule

increased or absent threshold for auditory brainstem response ( J:175861 )

• increased threshold at all frequencies tested

impaired hearing ( J:175861 )

• profound hearing loss

abnormal vestibular system physiology ( J:175861 )

• circling mice exhibit significant vestibular dysfunction while non-circling mice exhibit only a minor degree of vestibular dysfunction

behavior/neurological

abnormal behavior ( J:175861 )

• circling mice exhibit poorer performance on reaching, swimming, gripping, and rotarod tests compared with wild-type mice

abnormal placing response ( J:175861 )

• poor reaching in circling mice

impaired balance ( J:175861 )

impaired coordination ( J:175861 )

• in circling and non-circling mice on a rotarod

impaired swimming ( J:175861 )

• in circling mice

decreased grip strength ( J:175861 )

• in circling mice

head tilt ( J:175861 )

• in 23 of 50 mice before 3 weeks of age

circling ( J:175861 )

• in 23 of 50 mice before 3 weeks of age

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:175861 )

N • mice exhibit a normal thyroid profile

renal/urinary system

renal/urinary system phenotype ( J:175861 )

N • mice exhibit a normal renal profile

nervous system

abnormal hair cell morphology ( J:175861 )

• at 8 weeks, mice exhibit a wide spectrum of hair cell loss and degeneration in the saccule and semicircular canals unlike wild-type mice

• hair cells in the utricle are more affected than those in the saccule and semicircular canals

cochlear hair cell degeneration ( J:175861 )

• inner and outer hair cells

cochlear inner hair cell degeneration ( J:175861 )

cochlear outer hair cell degeneration ( J:175861 )

decreased vestibular hair cell number ( J:175861 )

• loss of utricular hair cells is more significant in circling mice than non-circling mice

vestibular hair cell degeneration ( J:175861 )

craniofacial

abnormal vestibular aqueduct morphology ( J:175861 )

• enlarged orifice

skeleton

abnormal vestibular aqueduct morphology ( J:175861 )

• enlarged orifice