Analysis Tools
mortality/aging
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• all mice eventually die within 1 month of birth
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• mice are born at normal Mendelian ratios but show a mean survival of 14 days
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growth/size/body
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• all mice exhibit typical head deformation resulting from severe hydrocephalus
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• mice are visibly smaller at P10
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• at P10
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heterotaxia
(
J:261915
)
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• 42% of mice show laterality defects, including reversal of the heart apex, stomach, liver, or spleen
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• mice show situs inversus, consistent with randomization of left-right body asymmetry
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nervous system
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• at P16, brain ventricle motile cilia lack both outer dynein arm (ODA) and inner dynein arm (IDA) structures
• however, the numbers of brain ventricle motile cilia and basal bodies are normal
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• at P16, lack of axonemal outer dynein arm (ODA) and inner dynein arm (IDA) structures results in a loss of ciliary motility and beating in the brain ventricles
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hydrocephaly
(
J:261915
)
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• all mice develop hydrocephaly
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• cerebral ventricles are dilated
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• all mice exhibit reduced cortical thickness
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respiratory system
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• although tracheal cilia show a typical 9+2 microtubular structure, ciliary axonemes lack both outer dynein arm (ODA) and inner dynein arm (IDA) structures, normally present in the peripheral microtubules
• however, the average number and morphology of tracheal cilia and basal bodies is normal
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• in some mice at P29
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• some mice surviving past P25 display severe lung inflammation, as shown by loss of alveolar architecture, thickening of alveolar septae, collapse of the alveolar space, and infiltration of inflammatory cells and fibroblasts
• however, fibrosis is absent at >P25 and no lung inflammation is seen in mice that die prior to P20
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• at P29, lungs show significant interstitial widening due to inflammatory infiltrates and edema
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• loss of alveolar architecture, thickening of alveolar septae, and collapse of the alveolar space in some mice surviving past P25
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• in some mice surviving past P25
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• at P14, some regions of the tracheal epithelium are surrounded by cellular debris and mucus
• in cultured mouse tracheal epithelial cells, the ODA intermediate chain protein DNAI2 is significantly decreased and fails to co-localize with acetylated alpha-tubulin, suggesting that motile cilia lack ODAs
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• Alcian Blue staining of the paranasal cavities revealed mucus congestion along the nasal epithelium, suggesting impaired mucociliary clearance
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cellular
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• at P16, brain ventricle motile cilia lack both outer dynein arm (ODA) and inner dynein arm (IDA) structures
• however, the numbers of brain ventricle motile cilia and basal bodies are normal
|
|
• although tracheal cilia show a typical 9+2 microtubular structure, ciliary axonemes lack both outer dynein arm (ODA) and inner dynein arm (IDA) structures, normally present in the peripheral microtubules
• however, the average number and morphology of tracheal cilia and basal bodies is normal
|
|
• at P16, lack of axonemal outer dynein arm (ODA) and inner dynein arm (IDA) structures results in a loss of ciliary motility and beating in the brain ventricles
|
immune system
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• some mice surviving past P25 display severe lung inflammation, as shown by loss of alveolar architecture, thickening of alveolar septae, collapse of the alveolar space, and infiltration of inflammatory cells and fibroblasts
• however, fibrosis is absent at >P25 and no lung inflammation is seen in mice that die prior to P20
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homeostasis/metabolism
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• in some mice at P29
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| primary ciliary dyskinesia 22 | DOID:0110597 |
OMIM:615444 |
J:261915 | |
