Analysis Tools
mortality/aging
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• approximately 50% die within 24 h struggling to breathe and/or failing to suckle effectively
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respiratory system
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• persistent oro-nasal membranes or, in some mice a partial rupture, resulting in choanal atresia
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• approximately 50% struggle to breathe
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craniofacial
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• reduced palatine process of the palatal bone (68%) at E18.5
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• vomer has not fused in the midline at E18.5
• however, the craniofacial skeleton surrounding the vomer is normal at E18.5
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• reduced size (74%) vomer at E18.5
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• fusion along the entire anterior-posterior axis is complete at E15.5
• severely reduced bone formation in the posterior hard palate at E15.5
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• aberrant pattern of rugae, combined with an area of translucency in the posterior portion
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• 2 of 30 mice show an overt cleft palate
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• anterior caudal attachment of the tongue to the mandible at E15.5
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• persistent oro-nasal membranes or, in some mice a partial rupture, resulting in choanal atresia
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skeleton
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• Alkaline phosphatase activity in the palate is significantly reduced
• Alkaline phosphatase activity in the mandible and anterior regions of the palate is normal
• reduced number of differentiated osteoblasts at E15.5
• differentiation of the osteoblasts delays at least one day
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• reduced palatine process of the palatal bone (68%) at E18.5
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• vomer has not fused in the midline at E18.5
• however, the craniofacial skeleton surrounding the vomer is normal at E18.5
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• reduced size (74%) vomer at E18.5
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• fusion along the entire anterior-posterior axis is complete at E15.5
• severely reduced bone formation in the posterior hard palate at E15.5
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• reduced mineralization of the palatine bone at E18.5
• complete lack of mineralization of the bones of the head at E15.5
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• severely reduced bone ossification in the posterior hard palate at E15.5
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digestive/alimentary system
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• reduced palatine process of the palatal bone (68%) at E18.5
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• fusion along the entire anterior-posterior axis is complete at E15.5
• severely reduced bone formation in the posterior hard palate at E15.5
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• aberrant pattern of rugae, combined with an area of translucency in the posterior portion
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• 2 of 30 mice show an overt cleft palate
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• anterior caudal attachment of the tongue to the mandible at E15.5
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cellular
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• Alkaline phosphatase activity in the palate is significantly reduced
• Alkaline phosphatase activity in the mandible and anterior regions of the palate is normal
• reduced number of differentiated osteoblasts at E15.5
• differentiation of the osteoblasts delays at least one day
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growth/size/body
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• reduced palatine process of the palatal bone (68%) at E18.5
|
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• fusion along the entire anterior-posterior axis is complete at E15.5
• severely reduced bone formation in the posterior hard palate at E15.5
|
|
|
• aberrant pattern of rugae, combined with an area of translucency in the posterior portion
|
|
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• 2 of 30 mice show an overt cleft palate
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|
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• anterior caudal attachment of the tongue to the mandible at E15.5
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• persistent oro-nasal membranes or, in some mice a partial rupture, resulting in choanal atresia
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| X-linked cleft palate with or without ankyloglossia | DOID:0060613 |
OMIM:303400 |
J:153100 | |
