Analysis Tools
hearing/vestibular/ear
| N |
• vestibular-evoked potential is normal and movement, righting responses, and swim tests are normal indicating normal vestibular function
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• bushy cells from homozygotes fire action potentials to less steeply rising depolarizations than in unaffected controls, miniature excitatory postsynaptic currents are larger and carry more charge than in unaffected controls
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• ABR could not be detected in homozygotes at 4 weeks of age
(J:125960)
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nervous system
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• the ventral cochlear nuclei are significantly smaller than normal, volumes reduced by 46%, and that of the dorsal cochlear nuclei did not reach significance
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• the auditory nerve is reduced by an average of 54%, the end bulbs of Held and the axons to them are smaller than normal, there are fewer end bulbs and they are thinner and more wispy with fewer branches per end than normal
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• distortion product acoustic emissions are normal, but auditory brainstem responses are not, consistent with failed synaptic transmission between cochlear hair cells and spiral ganglion cells
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behavior/neurological
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive nonsyndromic deafness 9 | DOID:0110535 |
OMIM:601071 |
J:125960 | |
