Analysis Tools
mortality/aging
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• very few pups produced from heterozygous intercrosses survive to weaning; however, these mice appear to have a normal life span thereafter
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hearing/vestibular/ear
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• some stereocilia of IHCs fuse to one another by P17
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• some stereocilia of OHCs fuse to one another by P17
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• marked hair cell loss at P90 in the apical and basal turns of the organ of Corti with inner hair cell (IHC) degeneration preceding OHC loss
• progressive HC degeneration parallels partial conservation of hearing at P16-P30
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• 5% of IHCs in the apical turn degenerate by P17
• 50% of IHCs are missing in the apical turn at P90
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• 5% of OHCs in the apical turn degenerate by P17; at this stage DPOAEs are absent indicating that OHCs are not functional
• 50% of OHCs are missing in the apical turn at P90
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• rare homozygotes exhibit only residual hearing at low frequencies (8 and 16 kHz) at P16, as determined by ABR thresholds
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• mice exhibit absent DPOAEs at all ages tested (P16, P30, P60 and P90), indicating loss of outer hair cell (OHC) function as early as P16
• however, endocochlear potentials remain normal indicating that stria vascularis function is unaffected
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• rare homozygotes show progressive loss of hearing
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reproductive system
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• homozygous mutant deaf females are fertile and produce many litters of healthy pups
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• epididymal sperm count is significantly reduced in infertile males
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• increased number of abnormal sperm with excessive fragmentation
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• spermatid heads are retained at the basement membranes and/or aggregates of spermatids are found around residual bodies
• infertile males show seminiferous tubule degeneration, primarily subcapsular and near the rete testis
• degeneration is characterized by loss of spermatogenic cells, vacuolization of sustentacular cells and partial collapse of the lumina
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• three surviving deaf males failed to produce progeny when mated repeatedly with several proven fertile wild-type C57BL/6 females over a 2- to 5-month period
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nervous system
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• some stereocilia of IHCs fuse to one another by P17
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• some stereocilia of OHCs fuse to one another by P17
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• marked hair cell loss at P90 in the apical and basal turns of the organ of Corti with inner hair cell (IHC) degeneration preceding OHC loss
• progressive HC degeneration parallels partial conservation of hearing at P16-P30
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• 5% of IHCs in the apical turn degenerate by P17
• 50% of IHCs are missing in the apical turn at P90
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• 5% of OHCs in the apical turn degenerate by P17; at this stage DPOAEs are absent indicating that OHCs are not functional
• 50% of OHCs are missing in the apical turn at P90
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cellular
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• epididymal sperm count is significantly reduced in infertile males
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• increased number of abnormal sperm with excessive fragmentation
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endocrine/exocrine glands
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• infertile males show seminiferous tubule degeneration, primarily subcapsular and near the rete testis
• degeneration is characterized by loss of spermatogenic cells, vacuolization of sustentacular cells and partial collapse of the lumina
• spermatid heads are retained at the basement membranes and/or aggregates of spermatids are found around residual bodies
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive nonsyndromic deafness 32 | DOID:0110491 |
OMIM:608653 |
J:257652 | |
