mortality/aging
|
• 70% of homozygotes die within 1-2 hours of birth due to cleft palate; remainder die within 10-24 hours of birth from respiratory complications
|
growth/size/body
cleft palate
(
J:110783
)
|
• 70% of newborns have cleft palate and die within 1-2 hours of birth
|
|
• thorax is small and narrow suggesting reduced ribcage size is reason for lung hypoplasia
|
|
• newborn mice have smaller bones of the axial, craniofacial and appendicular skeleton
|
|
• at E17.5 and at the newborn stage, conditional null embryos are 5% shorter than controls
|
craniofacial
cleft palate
(
J:110783
)
|
• 70% of newborns have cleft palate and die within 1-2 hours of birth
|
skeleton
|
• growth plates are significantly shortened in mutants
• in newborns, size reduction is more pronounced with disorganized arrangement of columnar chondrocytes and rounding of the chondrocytes rather than the normal flattened morphology
|
|
• in newborns, size reduction is more pronounced with disorganized arrangement of columnar chondrocytes and rounding of the chondrocytes rather than the normal flattened morphology
|
cellular
|
• in culture, mutant chondrocytes show reduction of adhesion to fibronectin or collagen I by 30% or 32% respectively compared to controls
|
|
• number of cyclin-D positive nuclei is reduced by 40% in the growth plates
|
|
• chondrocyte proliferation in the growth plate is reduced by 29% in mutants
|
respiratory system
|
• remaining mutants suffer from lung hypoplasia and die due to breathing problems
|
digestive/alimentary system
cleft palate
(
J:110783
)
|
• 70% of newborns have cleft palate and die within 1-2 hours of birth
|


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