hearing/vestibular/ear
• cochleae show fragmented, small vesicle-like gap junction plaques resulting in diminished total plaque areas at E17.5
• gap junction plaque disruption is already seen at the initial stage of formation at E14.5
• mice form gap junctions in the inner sulcus cells of the cochleae, although gap junctions are sometimes discontinuous with excessive endocytosis or abnormally condensed intermembrane layers around the gap junctions
• larger numbers of caveolae and vesicles are seen at cell borders of inner sulcus cells in 5 week old mutants
• an increase in caveolar structures is seen at the fragmented small vesicle-like gap junction plaques of cochleae, indicating endocytosis
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• impaired ability to propagate calcium oscillations from cell to cell in the cochlea at P5 (S3), however the frequency of calcium oscillations do not change
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• auditory brainstem response recordings show a threshold shift for both 8 kHz and 20 kHz in 7 week old mutants
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• severe sensorineural hearing loss
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cellular
• larger numbers of caveolae and vesicles are seen at cell borders of inner sulcus cells in 5 week old mutants
• an increase in caveolar structures is seen at the fragmented small vesicle-like gap junction plaques of cochleae, indicating endocytosis
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