Analysis Tools
mortality/aging
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• mice die at birth
|
craniofacial
|
• severe craniofacial phenotypes observed at P0
|
|
• reduced ossification of the anterior cranial base (presphenoid and basisphenoid)
• however, more posterior, mesoderm-derived components of the cranial base (basioccipital bone) are unaffected
|
|
• reduced calvarial growth, evident as reduction in calvarial microvasculature
|
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• persistent anterior fontanelle
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• 83% reduction in frontal bone volume
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• 76% reduction in parietal bone volume
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• formation of pterygoid wings is largely absent
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• 39% reduction in mandible volume
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micrognathia
(
J:306391
)
|
• severe micrognathia at P0
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retrognathia
(
J:306391
)
|
• reduction in palatine bone ossification
|
|
• 40% decrease in mesenchymal proliferation in the oral domain of palatal shelves at E13.5, with disorganized mesenchymal cells lining the shelf epithelium
• however, no significant apoptosis observed between E12.5-E13.5
|
|
• 15% increase in cell density in the nasal domain of palatal shelves at E13.5, with no differences observed in the oral domain
|
|
• palatal shelves fail to meet and fuse
• however, palatal shelf elevation appears normal
|
|
• palatal shelves are hypoplastic and dysmorphic as early as E12.5
• tip of the palatal shelf remains hypoplastic at later developmental stages
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• triangular shape face
|
|
• variable midfacial hypoplasia
|
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• snout shows loss of black pigment
|
cleft palate
(
J:306391
)
|
• fully penetrant cleft palate
|
|
• clefting of hard palate at P0
|
|
• shorter and thinner tongue at P0
|
short tongue
(
J:306391
)
growth/size/body
|
• head appears paler with a more domed shape
|
|
• 40% decrease in mesenchymal proliferation in the oral domain of palatal shelves at E13.5, with disorganized mesenchymal cells lining the shelf epithelium
• however, no significant apoptosis observed between E12.5-E13.5
|
|
• 15% increase in cell density in the nasal domain of palatal shelves at E13.5, with no differences observed in the oral domain
|
|
• palatal shelves fail to meet and fuse
• however, palatal shelf elevation appears normal
|
|
• palatal shelves are hypoplastic and dysmorphic as early as E12.5
• tip of the palatal shelf remains hypoplastic at later developmental stages
|
|
• triangular shape face
|
|
• variable midfacial hypoplasia
|
|
• snout shows loss of black pigment
|
cleft palate
(
J:306391
)
|
• fully penetrant cleft palate
|
|
• clefting of hard palate at P0
|
|
• shorter and thinner tongue at P0
|
short tongue
(
J:306391
)
skeleton
|
• reduced ossification of the anterior cranial base (presphenoid and basisphenoid)
• however, more posterior, mesoderm-derived components of the cranial base (basioccipital bone) are unaffected
|
|
• reduced calvarial growth, evident as reduction in calvarial microvasculature
|
|
• persistent anterior fontanelle
|
|
• 83% reduction in frontal bone volume
|
|
• 76% reduction in parietal bone volume
|
|
• formation of pterygoid wings is largely absent
|
|
• 39% reduction in mandible volume
|
micrognathia
(
J:306391
)
|
• severe micrognathia at P0
|
retrognathia
(
J:306391
)
|
• reduction in palatine bone ossification
|
|
• 99% reduction in TRAP-positive regions in the maxilla, along with an 85% reduction in the mandible, and a 99.5% reduction in the calvaria
|
|
• alterations in the extent of collagen fibril interconnection and orientation in the maxilla, calvaria and mandible at P0
|
|
• increased number of poorly aligned osteocytes with plump (immature) morphology in the maxilla, calvaria and mandible at P0
• reduction in Sost (sclerostin)-positive cells in the maxillary bone at P0, suggesting delayed osteocyte maturation
|
|
• overall reduction in trabeculation in the maxilla, calvaria and mandible
|
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• all intramembranously formed orofacial bones are decreased in size, resulting in an underdeveloped midface and mandible
|
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• intramembranous bones exhibit features of delayed maturation
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• reduced ossification of the palatine bones and the anterior cranial base (presphenoid and sphenoid)
• severely reduced ossification of anterior cranial bones; bones fail to cover most of the cranium at birth
• several primary ossification centers fail to expand and/or fuse
• however, interparietal, occipital and basioccipital bones are not significantly affected
|
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• bone remodeling is severely impaired at birth
• single-layered bone observed in the calvaria, indicating decreased or defective bone remodeling
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• nearly complete lack of bone resorption and, by extension, remodeling in the calvaria
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vision/eye
|
• partially open eyelids at P0
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cardiovascular system
|
• reduction in calvarial microvasculature
|
digestive/alimentary system
|
• 40% decrease in mesenchymal proliferation in the oral domain of palatal shelves at E13.5, with disorganized mesenchymal cells lining the shelf epithelium
• however, no significant apoptosis observed between E12.5-E13.5
|
|
• 15% increase in cell density in the nasal domain of palatal shelves at E13.5, with no differences observed in the oral domain
|
|
• palatal shelves fail to meet and fuse
• however, palatal shelf elevation appears normal
|
|
• palatal shelves are hypoplastic and dysmorphic as early as E12.5
• tip of the palatal shelf remains hypoplastic at later developmental stages
|
cleft palate
(
J:306391
)
|
• fully penetrant cleft palate
|
|
• clefting of hard palate at P0
|
|
• shorter and thinner tongue at P0
|
short tongue
(
J:306391
)
hematopoietic system
|
• 99% reduction in TRAP-positive regions in the maxilla, along with an 85% reduction in the mandible, and a 99.5% reduction in the calvaria
|
immune system
|
• 99% reduction in TRAP-positive regions in the maxilla, along with an 85% reduction in the mandible, and a 99.5% reduction in the calvaria
|
integument
|
• snout shows loss of black pigment
|
pigmentation
|
• snout shows loss of black pigment
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| KBG syndrome | DOID:14780 |
OMIM:148050 |
J:306391 | |
