Analysis Tools
mortality/aging
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• homozygotes die with cyanosis within half to two hours after birth
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growth/size/body
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• dwarfism at E18.5
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• significant reduction in body weight at E18.5 and E19.5, but not at E14.5-E16.5, relative to wild-type and heterozygous controls
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homeostasis/metabolism
respiratory system
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• developmental defects of lung tissues at E19.5
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skeleton
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• significant reduction of chondrocyte proliferation in E14.5 humeral growth plates relative to wild-type controls, as shown by BrdU incorporation and immunohistochemistry assays
• however, no significant difference in chondrocyte apoptosis is detected between at E14.5 and E16.5
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• dwarfism of all appendicular skeletal elements at E18.5
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• significant shortening of long bones at E14.5-E16.5
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• significant reduction in humerus length at E12.5 (11.2%), E13.5 (18.4%), E14.5 (23.1%), and E16.5 (23.1%)
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• dwarfism of all axial skeletal elements at E18.5
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• developmental skeletal defects with no obvious alteration in number or position of skeletal elements at E18.5
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• osteoblast differentiation is delayed relative to wild-type controls
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• length of cartilage templates is markedly reduced at E14.5
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• domain of hypertrophic chondrocytes is significantly reduced in E16.5 femurs relative to wild-type controls
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• small prehypertrophic and immature hypertrophic chondrocytes are still present in E14.5 femurs, indicating a severe delay in chondrocyte hypertrophy
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• lack or reduced size of mineralized bone tissue in sternum, spinal column, ilium, hindlimbs, forelimbs, and metacarpus at E18.5
• reduced mineralization in E16.5 femurs relative to wild-type controls
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• severe delay in the formation of the primary ossification center of skeletal elements (sternum, spinal column, ilium, hindlimbs, forelimbs, and metacarpus) at E18.5
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• ossified size of humerus is clearly smaller than that in wild-type controls at E16.5
• similar developmental defects in other skeletal elements, such as hindlimbs and vertebrae
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limbs/digits/tail
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• significant reduction in humerus length at E12.5 (11.2%), E13.5 (18.4%), E14.5 (23.1%), and E16.5 (23.1%)
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short limbs
(
J:233350
)
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• short limbs at E18.5; length of limbs is generally reduced from E12.5 to E16.5
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cellular
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• osteoblast differentiation is delayed relative to wild-type controls
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• significant reduction of chondrocyte proliferation in E14.5 humeral growth plates relative to wild-type controls, as shown by BrdU incorporation and immunohistochemistry assays
• however, no significant difference in chondrocyte apoptosis is detected between at E14.5 and E16.5
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