mortality/aging
• die shortly after birth
|
skeleton
• severe malformations of the axial skeleton, however skull and appendicular skeleton appear normal
|
• rib cage is distorted
|
• sternal malformations
|
• rib joints are missing and proximal ends of ribs do not contact vertebral bodies but are weakly attached to the laminae or float freely
|
• 13th rib is absent
|
rib fusion
(
J:62022
)
• occasional fusion of ribs
|
• shortened body axis due to severe lordosis in the thoracic region of the vertebral column
|
• strongly reduced or absent
|
• observe split ossification centers of vertebral bodies and occasionally increased width of vertebral bodies
|
• vertebral structures derived from the lateral sclerotomal mesenchyme are lost, suggesting that this mesenchyme is unable to proliferate and condense or form a cartilaginous preskeleton
|
nervous system
• dorsal root ganglia are expanded, perturbed and fail to form distinct entities at E10.5
|
• fused along the entire vertebral column
|
respiratory system
• thoracic cavity is smaller and lungs are hardly inflated, possibly indicating respiratory failure
|
renal/urinary system
N |
• no abnormal kidney phenotypes detected
|
growth/size/body