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Allele Symbol Allele Name Allele ID |
Slc26a4tm1.1Dontu targeted mutation 1.1, Department of Otolaryngology National Taiwan University Hospital MGI:5293411 |
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| Summary |
3 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• atrophy
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• severe endolymphatic hydrops
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Structural aberrations of the vestibular aqueduct and endolymphatic sac in Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu mice
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• enlarged orifice
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• marginal cells exhibit diminished membrane invaginations with vacuolization changes or interstitial edema
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• atrophy
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• enlarged
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• 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
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• inner and outer hair cells
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• loss of utricular hair cells is more significant in circling mice than non-circling mice
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• severe
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• enlarged fovea of the endolymphatic sac
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• ectopic distribution in the semicircular canal
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• in the utricle and saccule
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• giant otoconia in the utricle and saccule
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• increased threshold at all frequencies tested
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• profound hearing loss
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• circling mice exhibit significant vestibular dysfunction while non-circling mice exhibit only a minor degree of vestibular dysfunction
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• circling mice exhibit poorer performance on reaching, swimming, gripping, and rotarod tests compared with wild-type mice
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• poor reaching in circling mice
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• in circling and non-circling mice on a rotarod
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• in circling mice
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• in circling mice
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| N |
• mice exhibit a normal thyroid profile
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| N |
• mice exhibit a normal renal profile
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• 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
|
|
• inner and outer hair cells
|
|
• loss of utricular hair cells is more significant in circling mice than non-circling mice
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• enlarged orifice
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• enlarged orifice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice do not exhibit goiter
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| N |
• mice exhibit normal hearing and vestibular function up to 9 months
• mice exhibit normal cochlear and vestibular morphology
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| N |
• mice exhibit normal blood chemistry (T4, thyroid-stimulating hormone, blood urea nitrogen and creatinine)
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| N |
• mice exhibit normal renal profiles
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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 04/23/2024 MGI 6.23 |
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