Analysis Tools
cellular
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• high density of goblet cells in the epithelium of the middle ear cavity at 2 months of age
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mortality/aging
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• fewer (10.84%) than the expected 25% of mutants are seen at weaning from heterozygous intercrosses
• fewer (27.9%) than the expected 50% of homozygotes are seen at weaning from heterozygous female to homozygous male crossings, indicating embryonic or neonatal lethality
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embryo
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• central regions of the placental labyrinths are less well developed
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• reduction in maternal blood spaces in placentas
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• the maternal blood spaces appear larger with fewer surrounding fetal vessels
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growth/size/body
short face
(
J:198238
)
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• shorter face
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hearing/vestibular/ear
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• increase in mucosal thickness of the middle ear
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• high density of goblet cells in the epithelium of the middle ear cavity at 2 months of age
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• mucus-type ear effusion at 2 months of age
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• polyps that arise from the middle ear mucosa are seen at 4 months of age
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• the average auditory-evoked brainstem response thresholds are elevated by about 30 dB SPL in mutants at 2 months of age, suggesting conductive hearing loss
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• 50% of mutants have reduced hearing and 14% have almost normal hearing, although still reduced compared to wild-type mice, at 2 months of age
• however, no abnormalities are seen in the cochlea or organ of Corti and no loss of spinal ganglion neurons is seen
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• the average auditory-evoked brainstem response thresholds are elevated by about 30 dB SPL in mutants at 2 months of age, suggesting conductive hearing loss
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• mutants exhibit otitis media by 21 days of age, with 67% of mutants having fluid in the middle ear cavity and a thickened epithelial lining
• inflammation progresses to a chronic inflammation with effusion by 2 months of age
• appearance of cellular debris-like aggregates in the ear effusions at 2 and 4 months of age
• middle ear fluid contains granulocytes, monocytes, and macrophages and the infammatory cell populations vary over time
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behavior/neurological
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• 86% of mutants show a reduced Preyer's reflex at 1 month of age, and all mutants show reduced hearing by 2 months of age
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craniofacial
short face
(
J:198238
)
|
• shorter face
|
homeostasis/metabolism
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• mutants exhibit ear effusions at P21 that develop into mucus-type effusions at 2 months of age
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• mucus-type ear effusion at 2 months of age
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• levels of cytokines, TNF-alpha and IL-1beta, are elevated in ear fluids
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immune system
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• mutants exhibit otitis media by 21 days of age, with 67% of mutants having fluid in the middle ear cavity and a thickened epithelial lining
• inflammation progresses to a chronic inflammation with effusion by 2 months of age
• appearance of cellular debris-like aggregates in the ear effusions at 2 and 4 months of age
• middle ear fluid contains granulocytes, monocytes, and macrophages and the infammatory cell populations vary over time
|
|
• levels of cytokines, TNF-alpha and IL-1beta, are elevated in ear fluids
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nervous system
hydrocephaly
(
J:198238
)
|
• 11 of 67 mutants develop hydrocephalus at 11 months of age
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skeleton
reproductive system
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• by E13.5, the number of resorbed embryos is increased and only 56.25% of embryos appear normal
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• only 1 of 5 females gives birth to pups when mated with homozygous males
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respiratory system
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| otitis media | DOID:10754 | J:198238 | ||
