mortality/aging
growth/size/body
round head
(
J:137353
)
• rounded head
|
• neonates display severe dwarfism
|
craniofacial
round head
(
J:137353
)
• rounded head
|
limbs/digits/tail
• knee joint fails to form
|
short limbs
(
J:137353
)
• neonates have stunted limbs
|
skeleton
N |
• clavicles and cranial vault relatively normal (membrane bone)
|
• growth plate fails to develop normal pseudocolumnar organization
• growth plate is hypocellular
• after E15.5, ectopic chondrocytes impinge on primary ossification centers
|
• hypoplastic ribcage
|
• hypoplastic ribcage
|
• defects in chondrogenesis apparent by E12.5
• expression patterns of chondrocyte markers suggests delayed chondrocyte maturation
|
• knee joint fails to form
• abnormal and misoriented joint formation in digits
• involving non chondrogenic cavities extending longitudinally and expressing joint formation markers
|
• knee joint fails to form
|
digestive/alimentary system