Analysis Tools
hearing/vestibular/ear
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• mice exhibit hearing loss measured by auditory brainstem that is more severe than in BsndtmTjj/BsndtmTjj Tg(Sox10-cre)1Wdr mice
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Allele Symbol Allele Name Allele ID |
Slc12a2tm2Bhk targeted mutation 2, Beverly H Koller MGI:2181638 |
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| Summary |
2 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit hearing loss measured by auditory brainstem that is more severe than in BsndtmTjj/BsndtmTjj Tg(Sox10-cre)1Wdr mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• failure to startle in response to noise
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• circling in a clockwise direction
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• pups born to mutant females did not survive
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• lower mating frequency putatively due to altered motor activity
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• reduced number of spermatids
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• however, seminiferous tubule formation is normal
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• spermatozoa absent from the epididymis
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• acrosomal granule defects observed in spermatids
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• females are generally fertile, though they became pregnant less frequently than wild-type
• normal histology observed in the ovaries, oviducts, and uteri of females
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• size discrepancy relative to wild-type becomes less pronounced as mice reach maturity
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• 45% decrease in weight relative to wild-type at 14 days of age
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• severe structural defects in Boettcher cells
• nuclei are present in the normal location but the cytoplasm of cells is almost completely devoid of organelles and cell outlines are difficult to discern
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• Reissner's membrane consists of 3-4 cell layers instead of the usual two (one mesothelial and one epithelial) seen in wild-type controls
• in some areas, two of the layers resemble epithelial layers, and in others, there appear to be two mesothelial layers
• a substance of unknown composition is found between Reissner's membrane and underlying structures
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• partial to total collapse of Reissner's membrane onto the underlying stria vascularis, organ of Corti, and tectorial membrane
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• interdental cells appear shrunken away from the extracellular matrix of the spiral limbus and are greatly reduced in volume
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• large reduction or elimination of the endolymphatic compartment
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• partial collapse of fluid-filled compartments such as the spaces of Nuel and the tunnel of Corti
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• inner hair cells are extremely difficult to identify
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• supporting cells surrounding inner hair cells are extremely difficult to identify
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• abnormal orientation and relationships of the cells surrounding the tunnel of Corti
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• reduction or absence of the tunnel of Corti
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• type II fibrocytes appear to have less rough endoplasmic reticulum and somewhat larger spaces surrounding the cells than wild type contros
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• type IV fibrocytes appear to have larger extracellular spaces but are otherwise normal
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• strial marginal cells may have a reduced cellular volume
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• malformation of the tectorial membrane with a dark granular substance surrounding its edges
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• partial to almost complete absence of the scala media
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• inner hair cells are extremely difficult to identify
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• type II fibrocytes appear to have less rough endoplasmic reticulum and somewhat larger spaces surrounding the cells than wild type contros
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• type IV fibrocytes appear to have larger extracellular spaces but are otherwise normal
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• acrosomal granule defects observed in spermatids
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• reduced number of spermatids
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• spermatozoa absent from the epididymis
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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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