craniofacial
• all elements rostral to the interparietal element and tectum synoticum are largely absent
|
• the tectum synoticum is present as two lateral elements that do not transverse the midline
|
• interparietal element is dysmorphic and not ossified
|
• the supraoccipital and exoccipital elements are not ossified but are present
|
• the basioccipital element is absent
|
nervous system
• marker analysis indicates forebrain pattern defect, including a lack of Fgf8 expression in the anterior neural ridge indicating that the anterior neural ridge fail to develop
• early forebrain organizing centers are disrupted
|
• in E11.5 embryos
(J:187360)
|
• embryos present with anterior truncations of the head
|
growth/size/body
• mutants are smaller
• shortening of the femur by 10.4% and of the humerus by 5.7%
|
skeleton
• all elements rostral to the interparietal element and tectum synoticum are largely absent
|
• the tectum synoticum is present as two lateral elements that do not transverse the midline
|
• interparietal element is dysmorphic and not ossified
|
• the supraoccipital and exoccipital elements are not ossified but are present
|
• the basioccipital element is absent
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
holoprosencephaly | DOID:4621 |
OMIM:PS236100 |
J:187360 |