mortality/aging
• newborns die within minutes of birth, probably because they fail to initiate normal respiration
|
growth/size/body
• thoracic cavity is distended radially
|
barrel chest
(
J:55583
)
• slightly shorter in stature
|
hematopoietic system
absent spleen
(
J:55583
)
• 100% penetrance of asplenia in newborns; earliest absence of spleen precursor cells is seen at E11.5, at the time of normal appearance of spleen anlage
|
immune system
absent spleen
(
J:55583
)
• 100% penetrance of asplenia in newborns; earliest absence of spleen precursor cells is seen at E11.5, at the time of normal appearance of spleen anlage
|
craniofacial
• floor of the cranial vault is either reduced in size or has severe dysmorphology of the basisphenoid and basioccipital bones
|
• malformed
|
• malformed
|
• exoccipital bone is reduced in size and displays fissures
|
limbs/digits/tail
N |
• no defects in the limb skeleton
|
short tail
(
J:55583
)
• truncated tails
|
skeleton
• floor of the cranial vault is either reduced in size or has severe dysmorphology of the basisphenoid and basioccipital bones
|
• malformed
|
• malformed
|
• exoccipital bone is reduced in size and displays fissures
|
• intervertebral discs are about 0.2-0.5 times the normal thickness
|
• absent anterior arch of atlas
|
• neural arches are about 0.2-0.5 times the normal thickness
|
• in all vertebrae, the vertebral bodies are hypoplastic, with only a small region of the dorsal vertebral body still present and the ventral vertebral body completely absent
• all vertebral bodies at E18.5 show a total loss of ossification centers and at E12.5, chondrogenic condensations surrounding the notochord do not exhibit ossification centers
|
• 2.7-fold increase in the number of cells undergoing apoptosis in developing vertebral bodies at E10.5-E14.5
|
• reduction in the overall rostrocaudal length of individual vertebrae
|
• reduction in length of the vertebral column
|
• chondrogenesis is absent in vertebral bodies at E12.5 and E14.5
|
• all vertebral bodies at E18.5 show a total loss of ossification centers
• total absence of the ossification center of the cartilage primordium of the body of the hyoid bone
|