mortality/aging
• approximately 50% die within 24 h struggling to breathe and/or failing to suckle effectively
|
respiratory system
• persistent oro-nasal membranes or, in some mice a partial rupture, resulting in choanal atresia
|
• approximately 50% struggle to breathe
|
craniofacial
• reduced palatine process of the palatal bone (68%) at E18.5
|
• reduced size (74%) vomer at E18.5
• vomer has not fused in the midline at E18.5
• the craniofacial skeleton surrounding the vomer is normal at E18.5
|
• severely reduced bone formation in the posterior hard palate at E15.5
• however, fusion of the palatal shelves along the entire anterior-posterior axis is complete at E15.5
|
• aberrant pattern of rugae, combined with an area of translucency in the posterior portion
|
• 2 of 30 mice show an overt cleft palate (2/30)
|
• anterior caudal attachment of the tongue to the mandible at E15.5
|
• persistent oro-nasal membranes or, in some mice a partial rupture, resulting in choanal atresia
|
skeleton
• Alkaline phosphatase activity in the palate is significantly reduced
• reduced number of differentiated osteoblasts at E15.5
• differentiation of the osteoblasts delays at least one day
• Alkaline phosphatase activity in the mandible and anterior regions of the palate is normal
|
• reduced palatine process of the palatal bone (68%) at E18.5
|
• reduced size (74%) vomer at E18.5
• vomer has not fused in the midline at E18.5
• the craniofacial skeleton surrounding the vomer is normal at E18.5
|
• severely reduced bone formation in the posterior hard palate at E15.5
• however, fusion of the palatal shelves along the entire anterior-posterior axis is complete at E15.5
|
• reduced mineralization of the palatine bone at E18.5
• complete lack of mineralization of the bones of the head at E15.5
|
• severely reduced bone ossification in the posterior hard palate at E15.5
|
digestive/alimentary system
• reduced palatine process of the palatal bone (68%) at E18.5
|
• severely reduced bone formation in the posterior hard palate at E15.5
• however, fusion of the palatal shelves along the entire anterior-posterior axis is complete at E15.5
|
• aberrant pattern of rugae, combined with an area of translucency in the posterior portion
|
• 2 of 30 mice show an overt cleft palate (2/30)
|
• anterior caudal attachment of the tongue to the mandible at E15.5
|
cellular
• Alkaline phosphatase activity in the palate is significantly reduced
• reduced number of differentiated osteoblasts at E15.5
• differentiation of the osteoblasts delays at least one day
• Alkaline phosphatase activity in the mandible and anterior regions of the palate is normal
|
growth/size/body
• reduced palatine process of the palatal bone (68%) at E18.5
|
• severely reduced bone formation in the posterior hard palate at E15.5
• however, fusion of the palatal shelves along the entire anterior-posterior axis is complete at E15.5
|
• aberrant pattern of rugae, combined with an area of translucency in the posterior portion
|
• 2 of 30 mice show an overt cleft palate (2/30)
|
• anterior caudal attachment of the tongue to the mandible at E15.5
|
• persistent oro-nasal membranes or, in some mice a partial rupture, resulting in choanal atresia
|
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 |