mortality/aging
• all mice die shortly after birth without breathing
|
respiratory system
• fail to breath after birth
|
embryo
• expression analysis indicates that rostrocaudal polarity is disrupted
|
• considerable truncation at E18
|
• at E11.5 segmentation is absent in the caudal portion of homozygous embryos
|
skeleton
N |
• despite abnormalities in the axial skeleton, limb and skull morphology appear normal and no abnormalities in osteogenesis are detected
|
• at E18, rib pair number is reduced to 9 compared to 13 pairs in wild-type littermates
|
• at E18
|
rib fusion
(
J:122747
)
• at E18
|
• at E18 the metameric pattern of the vertebral bodies, intervertebral discs and neural arches is severely disrupted
|
• the pedicles of neural arches are fused or missing at E18
|
growth/size/body
• severely reduced in size at E18
|
limbs/digits/tail
short tail
(
J:122747
)
• visible at E18
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
spondylocostal dysostosis | DOID:0050568 |
OMIM:PS277300 |
J:122747 |