Analysis Tools
mortality/aging
|
• homozygotes survive embryonic development but die of cyanosis within 30 min after birth
|
craniofacial
|
• at E17.5, all homozygotes reduced growth of the cranial bones
|
|
• at P0, mesenchymal regions that preform the cranial sutures appear widened, suggesting reduced growth of calvarial bones
|
|
• at P0, the cranial vault is slightly smaller than normal and more rounded, suggesting alterations in the size and shape of calvarial elements
|
|
• at P0, the cranial vault is slightly smaller than normal
|
|
• at P0, homozygotes display an underdeveloped maxilla
|
|
• at P0, >90% of homozygotes exhibit a complete cleft palate, probably due to a failure of the palatal shelves to properly elevate
|
growth/size/body
|
• at P0, >90% of homozygotes exhibit a complete cleft palate, probably due to a failure of the palatal shelves to properly elevate
|
|
• neonatal homozygotes are ~10%-15% smaller than wild-type littermates
|
|
• at P0, all homozygotes display a smaller thoracic cavity
|
limbs/digits/tail
|
• at E17.5 and P0, homozygotes display delayed ossification in the fore- and hindlimbs
|
bowed radius
(
J:75879
)
|
• at P0, the curvature of the radius is increased while the ossified portion is reduced
|
|
• at E17.5, 4 of 11 homozygotes display incomplete development of the fibula
|
bowed tibia
(
J:75879
)
|
• at P0, the curvature of the tibia is increased while the ossified portion is reduced
|
|
• at E17.5, homozygotes display reduced ossification in the metatarsal bones
|
skeleton
bowed radius
(
J:75879
)
|
• at P0, the curvature of the radius is increased while the ossified portion is reduced
|
|
• at E17.5, 4 of 11 homozygotes display incomplete development of the fibula
|
bowed tibia
(
J:75879
)
|
• at P0, the curvature of the tibia is increased while the ossified portion is reduced
|
|
• at E17.5, homozygotes display reduced ossification in the metatarsal bones
|
|
• at E17.5, all homozygotes reduced growth of the cranial bones
|
|
• at P0, mesenchymal regions that preform the cranial sutures appear widened, suggesting reduced growth of calvarial bones
|
|
• at P0, the cranial vault is slightly smaller than normal and more rounded, suggesting alterations in the size and shape of calvarial elements
|
|
• at P0, the cranial vault is slightly smaller than normal
|
|
• at P0, homozygotes display an underdeveloped maxilla
|
|
• at P0, all homozygotes display deformed ribs
|
|
• although osteoprogenitor cells are present in the perichondrium/periosteum region at E15.5, functional osteoblasts are deficient in the trabecular region, suggesting impaired osteoblast maturation/proliferation
|
|
• at E16.5, the height of the distal femoral proliferating zone is increased by 14% relative to wild-type controls
• at E16.5, BrdU incorporation into proliferating chondrocytes of the proximal tibia and distal humerus growth plates is increased by 14% and 24%, respectively, while BrdU incorporation in the reserve zone of proximal tibia is increased by 36%
|
|
• at E16.5 and E18.5, the height of the distal femoral hypertrophic zone is increased by 60% and 37%, respectively, relative to wild-type controls
• hypertrophic zone elongation is associated with increased expression of type X collagen, suggesting increased chondrocyte differentiation
|
|
• at E16.5, the zones of mutant proliferating and hypertrophic chondrocytes are significantly elongated, resulting in an enlarged long bone growth plate
• however, the general cellular architecture of the growth plate remains intact, and the overall length of long bones is nearly normal
|
|
• at P0, all homozygotes display a ~2 day delay in the ossification of appendicular and axial skeletons
|
digestive/alimentary system
|
• at P0, >90% of homozygotes exhibit a complete cleft palate, probably due to a failure of the palatal shelves to properly elevate
|
homeostasis/metabolism
|
• homozygotes die of cyanosis within 30 min after birth, probably as a result of respiratory failure
|
respiratory system
|
• at P0, homozygotes exhibit mechanical problems with ventilation resulting from a reduction in thoracic cavity volume
|
cellular
|
• although osteoprogenitor cells are present in the perichondrium/periosteum region at E15.5, functional osteoblasts are deficient in the trabecular region, suggesting impaired osteoblast maturation/proliferation
|
