Analysis Tools
mortality/aging
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• mice die at birth
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craniofacial
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• morphology of Meckel's cartilage is disrupted at E14.5, with a reduction in size and a complete discontinuity on one side
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• small at E14.5
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• mandibular asymmetry in newborns, with the proximal region severely affected and the distal region only mildly affected; this asymmetry is associated with the asymmetry of tongue and the elevation of a single palatal shelf
• in newborns, the more severely affected side of the mandible corresponds to the side lacking palatal shelf elevation
• marker analysis indicates an initial decrease in the pool of osteogenic progenitors in the mandible followed by a delay in the osteogenic process
• however, cell proliferation and survival in mandibles at E12.5-E15.5 is similar to controls
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• the angle is severely disrupted or completely absent in some mice
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• condyle is greatly reduced in size
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• the coronoid process is severely disrupted or completely absent in some mice
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• newborn mandibles show an approximate 50% reduction in mandibular volume
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micrognathia
(
J:239772
)
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• micrognathia is detectable by E13.5 and mandibular defects are more severe at E14.5
• when micrognathia affects both sides equally, the tongue is symmetrically positioned in a high location and neither palatal shelf is elevated
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• palatal shelf elevation is impaired; both anterior and posterior regions of the palate are affected
• elevation defect is seen along the AP axis at E14.5 and E15.5
• in a rotational culture system, palatal shelves (dissected away from the mandible and tongue) from E13.5 mutants are able to elevate but do not fuse, suggesting that palatal shelf elevation defect results from primary malformation in the tongue and/or mandible
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• complete cleft palate
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• tongues exhibit malposition and disruption of muscle patterning with absence of tendon development
• cell survival in the tongue and cell proliferation in muscular and neural crest-derived components of the tongue are not affected at E12.5-E14.5 and marker analysis indicates that muscle differentiation in the tongue is not affected
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• the organization of fibers in both the intrinsic and extrinsic muscles of the tongue is altered, resulting in gross disruption of the muscle pattern and position
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• at E15.5, the extrinsic muscles of the tongue are attached directly to the Meckel's cartilage and in close vicinity to the bone primordium compared to control muscles which are not in contact with the cartilage or the osteogenic progenitors
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• tongues exhibit malposition: typically, one side of the tongue descends whereas the other side remains high, blocking the elevation of one palatal shelf
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• approximate 45% reduction in tongue volume
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digestive/alimentary system
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• palatal shelf elevation is impaired; both anterior and posterior regions of the palate are affected
• elevation defect is seen along the AP axis at E14.5 and E15.5
• in a rotational culture system, palatal shelves (dissected away from the mandible and tongue) from E13.5 mutants are able to elevate but do not fuse, suggesting that palatal shelf elevation defect results from primary malformation in the tongue and/or mandible
|
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• complete cleft palate
|
|
• tongues exhibit malposition and disruption of muscle patterning with absence of tendon development
• cell survival in the tongue and cell proliferation in muscular and neural crest-derived components of the tongue are not affected at E12.5-E14.5 and marker analysis indicates that muscle differentiation in the tongue is not affected
|
|
• the organization of fibers in both the intrinsic and extrinsic muscles of the tongue is altered, resulting in gross disruption of the muscle pattern and position
|
|
• at E15.5, the extrinsic muscles of the tongue are attached directly to the Meckel's cartilage and in close vicinity to the bone primordium compared to control muscles which are not in contact with the cartilage or the osteogenic progenitors
|
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• tongues exhibit malposition: typically, one side of the tongue descends whereas the other side remains high, blocking the elevation of one palatal shelf
|
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• approximate 45% reduction in tongue volume
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growth/size/body
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• palatal shelf elevation is impaired; both anterior and posterior regions of the palate are affected
• elevation defect is seen along the AP axis at E14.5 and E15.5
• in a rotational culture system, palatal shelves (dissected away from the mandible and tongue) from E13.5 mutants are able to elevate but do not fuse, suggesting that palatal shelf elevation defect results from primary malformation in the tongue and/or mandible
|
|
• complete cleft palate
|
|
• tongues exhibit malposition and disruption of muscle patterning with absence of tendon development
• cell survival in the tongue and cell proliferation in muscular and neural crest-derived components of the tongue are not affected at E12.5-E14.5 and marker analysis indicates that muscle differentiation in the tongue is not affected
|
|
• the organization of fibers in both the intrinsic and extrinsic muscles of the tongue is altered, resulting in gross disruption of the muscle pattern and position
|
|
• at E15.5, the extrinsic muscles of the tongue are attached directly to the Meckel's cartilage and in close vicinity to the bone primordium compared to control muscles which are not in contact with the cartilage or the osteogenic progenitors
|
|
• tongues exhibit malposition: typically, one side of the tongue descends whereas the other side remains high, blocking the elevation of one palatal shelf
|
|
• approximate 45% reduction in tongue volume
|
muscle
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• the organization of fibers in both the intrinsic and extrinsic muscles of the tongue is altered, resulting in gross disruption of the muscle pattern and position
|
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• at E15.5, the extrinsic muscles of the tongue are attached directly to the Meckel's cartilage and in close vicinity to the bone primordium compared to control muscles which are not in contact with the cartilage or the osteogenic progenitors
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skeleton
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• morphology of Meckel's cartilage is disrupted at E14.5, with a reduction in size and a complete discontinuity on one side
|
|
• small at E14.5
|
|
• mandibular asymmetry in newborns, with the proximal region severely affected and the distal region only mildly affected; this asymmetry is associated with the asymmetry of tongue and the elevation of a single palatal shelf
• in newborns, the more severely affected side of the mandible corresponds to the side lacking palatal shelf elevation
• marker analysis indicates an initial decrease in the pool of osteogenic progenitors in the mandible followed by a delay in the osteogenic process
• however, cell proliferation and survival in mandibles at E12.5-E15.5 is similar to controls
|
|
• the angle is severely disrupted or completely absent in some mice
|
|
• condyle is greatly reduced in size
|
|
• the coronoid process is severely disrupted or completely absent in some mice
|
|
• newborn mandibles show an approximate 50% reduction in mandibular volume
|
micrognathia
(
J:239772
)
|
• micrognathia is detectable by E13.5 and mandibular defects are more severe at E14.5
• when micrognathia affects both sides equally, the tongue is symmetrically positioned in a high location and neither palatal shelf is elevated
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Weissenbacher-Zweymuller syndrome | DOID:4258 |
OMIM:261800 |
J:239772 | |
