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

hearing/vestibular/ear
• 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
• 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
• 3 month old mice displayed a progressive loss of vestibular hair cells
• complete absence of acoustic brainstem response at 3 weeks of age
• mice are congenitally deaf

vision/eye
• a slight peripheral retinal degeneration was observed at 9 months of age

nervous system
• 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
• 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
• 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 EuPh Europhenome
N normal phenotype
hearing/vestibular/ear
• hair bundles in the cochlea lack upper tip-link densities but do contain tip links
• degenerative changes in the organ of Corti are evident in mice over a few months in age
• 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
• by 4 weeks of age, auditory thresholds are greater than 90 dB
• by 4 weeks of age

nervous system
• hair bundles in the cochlea lack upper tip-link densities but do contain tip links
• 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
• degenerative changes in the organ of Corti affecting the spiral ganglion neurons are evident in mice over a few months of age