Mouse Genome Informatics
hm1
    Cdh23Jera/Cdh23Jera
involves: C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hearing/vestibular/ear
N
• no signs of vestibular dysfunction (J:174130)
• the tunnel of Corti is less well formed at 4 weeks of age
• absence of stereociliary tip tenting of IHC second tallest row stereocilia indicating disruption of tip links
• some indication of hair cell degeneration in the basal cochlear region at 4 weeks of age
• by 8 and 12 weeks of age signs of hair cell degeneration are clearly apparent in the basal and midcochlear turns
• collapse of the organ of Corti in the basal and midcochlear turns at 8 and 12 weeks of age
• significantly increased threshold at 4 weeks of age
• profound hearing loss at 4 weeks of age

behavior/neurological
N
• no signs of vestibular dysfunction (J:174130)

nervous system
• absence of stereociliary tip tenting of IHC second tallest row stereocilia indicating disruption of tip links
• some indication of hair cell degeneration in the basal cochlear region at 4 weeks of age
• by 8 and 12 weeks of age signs of hair cell degeneration are clearly apparent in the basal and midcochlear turns
• loss of spiral ganglion neurons in the basal and midcochlear turns at 8 and 12 weeks of age

Mouse Models of Human Disease
OMIM IDRef(s)
Deafness, Autosomal Recessive 12; DFNB12 601386 J:174130


Mouse Genome Informatics
ht2
    Cdh23Jera/Cdh23+
involves: C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hearing/vestibular/ear
• at 13 weeks of age in the basal cochlear turn, with approximately 50% of OHCs missing in this region
• increased threshold at 24 weeks of age
• later onset and milder than in homozygous mice

nervous system
• at 13 weeks of age in the basal cochlear turn, with approximately 50% of OHCs missing in this region