mortality/aging
• homozygotes are underrepresented by P10 and none survive to weaning
|
craniofacial
domed cranium
(
J:94631
)
• fusion of the occipital sutures prevents longitudinal growth of the skull displacing the brain and producing a domed skull
|
growth/size/body
• by P10 mutants are severely runted
|
skeleton
domed cranium
(
J:94631
)
• fusion of the occipital sutures prevents longitudinal growth of the skull displacing the brain and producing a domed skull
|
• by P2 hypertrophic chondrocytes are found in the chondrocostal cartilage of mutants but not in wild-type mice
• by P8 a mature ossification center is established and the hypertrophic chondrocytes are replace by trabeculated bone
|
• the chondrocostal cartilage which normally does not ossify is almost completely ossified in mutants
|
• pups have visibly deformed spines as a result of ossification defects
|
• cartilaginous regions in the vertebrae and hyoid bones are completely ossified and premature mineralization was seen in the cartilage of all bones forming through endochondral ossification
• premature ossification can be seen by E18
|
• the occipital sutures are ossified at P8
|
nervous system
exencephaly
(
J:94631
)
• a subset of mutants have exencephaly
|