Analysis Tools
hearing/vestibular/ear
| N |
• vestibular function is intact and no hair cell death is seen in the vestibular organs
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• tricellular tight junction-like structures appear discontinuous, are formed by a series of particles arranged in an orderly but disconnected fashion, and the fishbone-like appearance is absent
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• progressive degeneration starting by P16
• by P35, no outer hair cells and very few inner hair cells are present
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• starts later than in outer hair cells
• very few inner hair cells are left by P35 and these are confined to the apical and middle turns of the cochlea
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• progressive degeneration starting by P16
• by P35 no outer hair cells are left
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• abnormal tricellular tight junctions in the marginal cells
• however, barrier function is unaffected
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• thinning is seen in mice at 3 months of age
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• abnormal tricellular tight junctions
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• detected as early as P16 and worsens with age
• profoundly deaf across all frequencies by P30
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• attenuated compared to controls at P16-17
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nervous system
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• progressive degeneration starting by P16
• by P35, no outer hair cells and very few inner hair cells are present
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• starts later than in outer hair cells
• very few inner hair cells are left by P35 and these are confined to the apical and middle turns of the cochlea
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• progressive degeneration starting by P16
• by P35 no outer hair cells are left
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• progressive degeneration after P50
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cardiovascular system
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• increase in the number of myocytes with enlarged nuclei
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• increased heart to brain weight ratio
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growth/size/body
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• increased heart to brain weight ratio
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• abnormalities in the rostral olfactory epithelium
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• at 3 months of age
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• increased kidney to brain weight ratio
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• increased liver to brain weight ratio
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• increased spleen to brain weight ratio
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hematopoietic system
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• increased spleen to brain weight ratio
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immune system
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• increased spleen to brain weight ratio
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liver/biliary system
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• increased liver to brain weight ratio
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renal/urinary system
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• increased kidney to brain weight ratio
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craniofacial
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• abnormalities in the rostral olfactory epithelium
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digestive/alimentary system
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• granular ducts of the mandibular salivary glands show a decrease in granules in males and depletion of the granules in females
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endocrine/exocrine glands
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• granular ducts of the mandibular salivary glands show a decrease in granules in males and depletion of the granules in females
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• increase in the number of ectatic thyroid follicles
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muscle
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• increase in the number of myocytes with enlarged nuclei
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respiratory system
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• abnormalities in the rostral olfactory epithelium
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taste/olfaction
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• abnormalities in the rostral olfactory epithelium
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive nonsyndromic deafness 49 | DOID:0110506 |
OMIM:610153 |
J:201580 | |
N
N