Analysis Tools
mortality/aging
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• most die at birth to P3, though some survived as long as P12-P40
(J:73616)
• mice do not survive beyond P7
(J:174694)
|
embryo
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• completely immotile nodal cilia
|
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• appear slightly smaller compared to wild-type controls
|
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• position of cilia emergence is randomized rather than polarized towards the posterior end of the nodal cells
|
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• severe reduction in length in both mid and late head fold stage embryos
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nervous system
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• at P21, multiple brain regions and the olfactory bulb exhibit growth defects compared to in wild-type mice
|
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• mice exhibit growth retardation in the olfactory bulb
|
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• those that survive to P7, develop a hydrocephalic head shape
(J:73616)
|
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• cerebral ventricles lack cilia
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• at P21, the ependymal layer organization is disrupted and S100b+ ependymal cells are absent at P6 and P21
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• absence of classic motile type cilia with a 9 + 2 microtubule ultrastructure in the brain
• in contrast, normal embryonic node cilia are present at E7.5 to E7.7
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• in mice that survived past P7
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• at P21, the volume of the olfactory bulb is reduced compared to in wild-type mice
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• at P21, the surface of the subventricular zone lacks cilia unlike in wild-type mice
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astrocytosis
(
J:154976
)
|
• on the ventricular surface
|
cardiovascular system
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• abnormalities of the great vessels of the heart including transposition
|
dextrocardia
(
J:73616
)
growth/size/body
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• approximately half the homozygous mice exhibit heterotaxia or dextrocarida or both
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respiratory system
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• absence of classic motile type cilia with a 9 + 2 microtubule ultrastructure in the airway epithelial cells
|
reproductive system
 |
• absence of classic motile type cilia with a 9 + 2 microtubule ultrastructure in the oviduct epithelial cells
|
cellular
|
• absence of classic motile type cilia with a 9 + 2 microtubule ultrastructure in the brain
• in contrast, normal embryonic node cilia are present at E7.5 to E7.7
|
|
• position of cilia emergence is randomized rather than polarized towards the posterior end of the nodal cells
|
|
• severe reduction in length in both mid and late head fold stage embryos
|
|
|
• absence of classic motile type cilia with a 9 + 2 microtubule ultrastructure in the oviduct epithelial cells
|
|
• absence of classic motile type cilia with a 9 + 2 microtubule ultrastructure in the airway epithelial cells
|
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• completely immotile nodal cilia
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Kartagener syndrome | DOID:0050144 | J:73616 | ||
| primary ciliary dyskinesia | DOID:9562 |
OMIM:PS244400 |
J:73616 | |
