Mouse Genome Informatics
hm1
     Ush1cdfcr/Ush1cdfcr
involves: BALB/cByJ
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
behavior/neurological

hearing/vestibular/ear
abnormal inner hair cell stereociliary bundle morphology ( J:85400 )
• at 3 weeks of age, before hair cell degeneration was apparent, examination of of the organ of Corti revealed that stereocilia of the inner hair cells displayed a milder disorganization than the outer hair cells
abnormal outer hair cell stereociliary bundle morphology ( J:85400 )
• at 3 weeks of age, before hair cell degeneration was apparent, examination of of the organ of Corti revealed disorganization of the normally rigid and structured outer hair cell stereocilia
vestibular hair cell degeneration ( J:85400 )
• 3 month old mice displayed a progressive loss of vestibular hair cells
increased or absent threshold for auditory brainstem response ( J:85400 )
• complete absence of acoustic brainstem response at 3 weeks of age
deafness ( J:85400 )
• mice are congenitally deaf

vision/eye
retinal degeneration ( J:85400 )
• a slight peripheral retinal degeneration was observed at 9 months of age

nervous system
abnormal inner hair cell stereociliary bundle morphology ( J:85400 )
• at 3 weeks of age, before hair cell degeneration was apparent, examination of of the organ of Corti revealed that stereocilia of the inner hair cells displayed a milder disorganization than the outer hair cells
abnormal outer hair cell stereociliary bundle morphology ( J:85400 )
• at 3 weeks of age, before hair cell degeneration was apparent, examination of of the organ of Corti revealed disorganization of the normally rigid and structured outer hair cell stereocilia
vestibular hair cell degeneration ( J:85400 )
• 3 month old mice displayed a progressive loss of vestibular hair cells


Mouse Genome Informatics
hm2
     Ush1cdfcr/Ush1cdfcr
involves: BALB/cBySmn * C57BL/6 * CB17
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
hearing/vestibular/ear
abnormal cochlear hair bundle tip links morphology ( J:157359 )
• hair bundles in the cochlea lack upper tip-link densities but do contain tip links
organ of Corti degeneration ( J:157359 )
• degenerative changes in the organ of Corti are evident in mice over a few months in age
abnormal hair cell mechanoelectric transduction ( J:157359 )
• resting Po and adaptation time constants are significantly reduced and slow adaptation is significantly slowed compared to wild-type
• the mean Tfast in hair cells is nearly doubled
• activation of transducer currents at similar Po was significantly slowed
• activation time constants and resting Po is reduced
• both the kinetics of channel activation and adaptation are slowed
increased or absent threshold for auditory brainstem response ( J:157359 )
• by 4 weeks of age, auditory thresholds are greater than 90 dB
deafness ( J:157359 )
• by 4 weeks of age

nervous system
abnormal cochlear hair bundle tip links morphology ( J:157359 )
• hair bundles in the cochlea lack upper tip-link densities but do contain tip links
abnormal hair cell mechanoelectric transduction ( J:157359 )
• resting Po and adaptation time constants are significantly reduced and slow adaptation is significantly slowed compared to wild-type
• the mean Tfast in hair cells is nearly doubled
• activation of transducer currents at similar Po was significantly slowed
• activation time constants and resting Po is reduced
• both the kinetics of channel activation and adaptation are slowed
cochlear ganglion degeneration ( J:157359 )
• degenerative changes in the organ of Corti affecting the spiral ganglion neurons are evident in mice over a few months of age