mortality/aging
• all homozygotes die within 12-18 hrs of birth with meteorism
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vision/eye
• formation of the optic canal, which is contiguous with the presphenoid bone, is impaired
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behavior/neurological
• shortly after birth, mutant pups are unable to suckle, as evidenced by the absence of milk in their stomachs
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growth/size/body
• newborn homozygotes display a lateral shift of the maxillary shelves
• the palatal processes of the maxillary are absent or malformed
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• the palatal processes of the palatine are absent or malformed
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• the palatal processes of the palatine are absent or malformed
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• newborn homozygotes exhibit a failed fusion of palate shelves
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• newborn homozygotes display loss of the soft palate
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• all homozygotes show an extensive cleft of the secondary palate without other craniofacial defects
• as a result, mutant pups fail to develop negative pressure in the oral cavity and are unable to suckle
• however, the development of Meckel's cartilage and extent of cell proliferation during palatogenesis are normal
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• during palatogenesis, the tongue fails to descend and flatten to allow vertical-to-horizontal movement of the palatal shelves
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• during palatogenesis, the tongue fails to descend and flatten to allow vertical-to-horizontal movement of the palatal shelves
• as a result, the tongue is abnormally shaped and partially located between the two palate shelves, physically obstructing the normal fusion of palatal shelves observed in wild-type mice
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• homozygotes display meteorism i.e. an abnormally distended GI tract filled by pockets of gas and fluid within 12 hrs of birth
• the flatus first appears in the stomach, enters the intestinal tract, and eventually fills the entire GI tract
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craniofacial
• formation of the optic canal, which is contiguous with the presphenoid bone, is impaired
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• ossification of the presphenoid bone is defective due to secondary effects of the cleft palate
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• the pterygoid bone is absent or malformed
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• newborn homozygotes display a lateral shift of the maxillary shelves
• the palatal processes of the maxillary are absent or malformed
|
• the palatal processes of the palatine are absent or malformed
|
• the palatal processes of the palatine are absent or malformed
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• newborn homozygotes exhibit a failed fusion of palate shelves
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• newborn homozygotes display loss of the soft palate
|
• all homozygotes show an extensive cleft of the secondary palate without other craniofacial defects
• as a result, mutant pups fail to develop negative pressure in the oral cavity and are unable to suckle
• however, the development of Meckel's cartilage and extent of cell proliferation during palatogenesis are normal
|
• during palatogenesis, the tongue fails to descend and flatten to allow vertical-to-horizontal movement of the palatal shelves
|
• during palatogenesis, the tongue fails to descend and flatten to allow vertical-to-horizontal movement of the palatal shelves
• as a result, the tongue is abnormally shaped and partially located between the two palate shelves, physically obstructing the normal fusion of palatal shelves observed in wild-type mice
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digestive/alimentary system
N |
• although newborn homozygotes exhibit an air-distended GI tract, no morphological or functional abnormalities are observed in the foregut
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• newborn homozygotes display a lateral shift of the maxillary shelves
• the palatal processes of the maxillary are absent or malformed
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• the palatal processes of the palatine are absent or malformed
|
• the palatal processes of the palatine are absent or malformed
|
• newborn homozygotes exhibit a failed fusion of palate shelves
|
• newborn homozygotes display loss of the soft palate
|
• all homozygotes show an extensive cleft of the secondary palate without other craniofacial defects
• as a result, mutant pups fail to develop negative pressure in the oral cavity and are unable to suckle
• however, the development of Meckel's cartilage and extent of cell proliferation during palatogenesis are normal
|
• during palatogenesis, the tongue fails to descend and flatten to allow vertical-to-horizontal movement of the palatal shelves
|
• during palatogenesis, the tongue fails to descend and flatten to allow vertical-to-horizontal movement of the palatal shelves
• as a result, the tongue is abnormally shaped and partially located between the two palate shelves, physically obstructing the normal fusion of palatal shelves observed in wild-type mice
|
• homozygotes display meteorism i.e. an abnormally distended GI tract filled by pockets of gas and fluid within 12 hrs of birth
• the flatus first appears in the stomach, enters the intestinal tract, and eventually fills the entire GI tract
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skeleton
• formation of the optic canal, which is contiguous with the presphenoid bone, is impaired
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• ossification of the presphenoid bone is defective due to secondary effects of the cleft palate
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• the pterygoid bone is absent or malformed
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• newborn homozygotes display a lateral shift of the maxillary shelves
• the palatal processes of the maxillary are absent or malformed
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• the palatal processes of the palatine are absent or malformed
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• the palatal processes of the palatine are absent or malformed
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respiratory system
N |
• newborn homozygotes display normal lung development with no significant alterations in differentiation and maturation of lung epithelial cells
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