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Phenotypes Associated with This Genotype
Genotype
MGI:2385830
Allelic
Composition
Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic
Background
either: (involves: 129S6/SvEvTac) or (involves: 129S6/SvEvTac * Black Swiss)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc26a4tm1Egr mutation (1 available); any Slc26a4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• failed to exhibit a Preyer's reflex to a loud clap (J:67072)
• failed to exhibit a Preyer's reflex to a loud clap (J:67072)
• impairment on a rotarod test (J:67072)
• impairment on a rotarod test (J:67072)
• gait unsteadiness evident upon beginning to walk (J:67072)
• gait unsteadiness evident upon beginning to walk (J:67072)
• pronounced head bobbing at 3 weeks of age (J:67072)
• pronounced head bobbing at 3 weeks of age (J:67072)
• pronounced head tilting at 3 weeks of age (J:67072)
• pronounced head tilting at 3 weeks of age (J:67072)
• profound circling behavior at 3 weeks of age (J:67072)
• profound circling behavior at 3 weeks of age (J:67072)

hearing/vestibular/ear
• defects detectable at E15 (J:67072)
• defects detectable at E15 (J:67072)
• bulging due to dilation of scala media observed at P1 (J:67072)
• bulging due to dilation of scala media observed at P1 (J:67072)
• in some cases, IHC degeneration is associated with enlarged stereocilia (J:67072)
• in some cases, IHC degeneration is associated with enlarged stereocilia (J:67072)
• inner hair cell degeneration starting between P7 and P15, with variation among different cochleas as well as areas of the same cochlea (J:67072)
• inner hair cell degeneration starting between P7 and P15, with variation among different cochleas as well as areas of the same cochlea (J:67072)
• outer hair cell degeneration starting between P7 and P15, with considerable variation among different cochleas as well as areas of the same cochlea (J:67072)
• outer hair cell degeneration starting between P7 and P15, with considerable variation among different cochleas as well as areas of the same cochlea (J:67072)
• dilated scala media at P1 (J:67072)
• dilated scala media at P1 (J:67072)
• dilated cochlea observed at E15.5-E16.5 (J:67072)
• dilated cochlea observed at E15.5-E16.5 (J:67072)
• some mice develop dilated semicircular canals (J:67072)
• some mice develop dilated semicircular canals (J:67072)
• dilated saccule observed at E15.5-E16.5 (J:67072)
• dilated saccule observed at E15.5-E16.5 (J:67072)
• dilated endolymphatic duct starting at E15 (J:67072)
• dilated endolymphatic duct starting at E15 (J:67072)
• dilated endolymphatic sac starting at E15 (J:67072)
• dilated endolymphatic sac starting at E15 (J:67072)
• destruction of the otoconial membrane (J:67072)
• destruction of the otoconial membrane (J:67072)
• almost complete absence of otoconia (J:67072)
• almost complete absence of otoconia (J:67072)
• at P30, occasional presence of giant otoconia, when present (J:67072)
• at P30, occasional presence of giant otoconia, when present (J:67072)
• failed to show characteristic waveforms by auditory-evoked brainstem response analyses (J:67072)
• failed to show characteristic waveforms by auditory-evoked brainstem response analyses (J:67072)
• at P28-P42, homozygotes show no characteristic ABR waveforms at intensities up to 100 dB SPL and with all four test stimuli, indicating complete hearing loss (J:67072)
• at P28-P42, homozygotes show no characteristic ABR waveforms at intensities up to 100 dB SPL and with all four test stimuli, indicating complete hearing loss (J:67072)
• ~50% of homozygotes exhibit various signs of vestibular dysfunction, including habitual circling behaviour, head-tilting and head-bobbing and/or an abnormal reaching response (J:67072)
• vestibular dysfunction shows variable expressivity with respect to its presence, features and severity, but not age of onset (J:67072)
• ~50% of homozygotes exhibit various signs of vestibular dysfunction, including habitual circling behaviour, head-tilting and head-bobbing and/or an abnormal reaching response (J:67072)
• vestibular dysfunction shows variable expressivity with respect to its presence, features and severity, but not age of onset (J:67072)

nervous system
• in some cases, IHC degeneration is associated with enlarged stereocilia (J:67072)
• in some cases, IHC degeneration is associated with enlarged stereocilia (J:67072)
• inner hair cell degeneration starting between P7 and P15, with variation among different cochleas as well as areas of the same cochlea (J:67072)
• inner hair cell degeneration starting between P7 and P15, with variation among different cochleas as well as areas of the same cochlea (J:67072)
• outer hair cell degeneration starting between P7 and P15, with considerable variation among different cochleas as well as areas of the same cochlea (J:67072)
• outer hair cell degeneration starting between P7 and P15, with considerable variation among different cochleas as well as areas of the same cochlea (J:67072)


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory