Mouse Genome Informatics
cn
    Gjb2tm1Ugds/Gjb2tm1Ugds
Tg(Otog-cre)1Ugds/0

involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
hearing/vestibular/ear
• direct efferent synapses are present on inner hair cells
• several synaptic ribbons, instead of the usual single one, are frequently observed in the active zone of the inner hair cell synaptic area
• outer hair cells are damaged or lost
• supporting cells of outer hair cells are damaged or lost
• at P60, some interdental cells of the spiral limbus are missing
• observe death of various cells in the cochlea that is not seen in wild-type
• organ of Corti tends to collapse starting at P15-P16
• many epithelial cells have an altered shape and the reticular lamina is disrupted
• decreased endolymphatic K+ concentration
• 4 inner ears out of 41 had a hearing threshold > 100 dB sound pressure level (SPL)
• at 3 to 12 weeks of age, mice showed a significant hearing loss, compared to heterozygous and control mice, for all frequencies tested; it ranged from 30 dB to more than 70 dB, with an average of 30 dB at 8 kHz, 31 dB at 16 kHz, and 36 dB at 32 kHz
• analysis of mutant mice individually showed that the hearing loss was more pronounced at 32 kHz than at 8 kHz

nervous system
• direct efferent synapses are present on inner hair cells
• several synaptic ribbons, instead of the usual single one, are frequently observed in the active zone of the inner hair cell synaptic area
• outer hair cells are damaged or lost

Mouse Models of Human Disease
OMIM IDRef(s)
Deafness, Autosomal Recessive 1A; DFNB1A 220290 J:77823