Mouse Genome Informatics
hm1
    Cdh23sals/Cdh23sals
involves: C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hearing/vestibular/ear
N
• vestibular hair cells maintain tip links and no abnormal degeneration of the vestibule is detected (J:147149)
• while tenting is present throughout the cochlear duct at P5, by P21 tenting is absent from hair cells the basal turn and by P60 tenting is absent from all hair cells indicating loss of tip links
• cells die by apoptosis
• current displacement assays indicate mild impairment of hair cell function at P7 - P8
• auditory threshold of more than 90 dB, indicating that lines are severely hearing impaired in 8- to 12 week old animals (J:119820)
• thresholds at 2 weeks and 3 months of age are 78+/-15 dB and 100+/-5 dB, respectively compared to 20+/-5 dB in controls (J:147149)
• hearing impaired across all frequencies
• progressive hearing loss

behavior/neurological
N
• despite hearing loss, movement and swimming ability are normal indicating that the vestibular system is unaffected (J:147149)
• low auditory startle response

nervous system
• while tenting is present throughout the cochlear duct at P5, by P21 tenting is absent from hair cells the basal turn and by P60 tenting is absent from all hair cells indicating loss of tip links
• cells die by apoptosis
• current displacement assays indicate mild impairment of hair cell function at P7 - P8
• seen by P90
• cells die by apoptosis

Mouse Models of Human Disease
OMIM IDRef(s)
Deafness, Autosomal Recessive 12; DFNB12 601386 J:147149


Mouse Genome Informatics
ht2
    Cdh23sals/Cdh23v-2J
involves: C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hearing/vestibular/ear