Analysis Tools
embryo
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• increased neural crest cell proliferation in the facial prominences, as shown by BrdU immunostaining
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• cranial neural crest cells do not extend primary cilia
• primary cilia are truncated in frontonasal prominence
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nervous system
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• cranial neural crest cells do not extend primary cilia
• primary cilia are truncated in frontonasal prominence
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• failure of neural fibers to span the midline
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craniofacial
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• craniofacial skeleton elements are displaced laterally but their maturation is unaffected
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• severely dysmorphic
• anterior cranium occultum
• trabecular basal plate is reduced to bony nodules or absent at E17.5
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• is reduced to bony nodules or absent at E17.5
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• laterally displaced and underdeveloped resulting in an abnormal opening in the skull
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• ramus is absent
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• 30% shorter than wild-type
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• laterally displaced at E17.5
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• laterally displaced at E17.5
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• laterally displaced at E17.5
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• the palatine bones are dysmorphic and do not extend towards the midline
• some small ectopic ossifications are found in the midline which may or may not be fragments of the palatine bones
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• presence of an abnormal skin-covered gap in the front of the head
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• at E11.5 and E12.5 infra-nasal measurements show an increase in frontonasal width
• at E14.5, almost 100% wider than wild-type and at E17.5 120% wider than wild-type
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• at E12.5, septum is evident as a bifid condensation and by E16.5 a duplicated nasal septum is present
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digestive/alimentary system
skeleton
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• craniofacial skeleton elements are displaced laterally but their maturation is unaffected
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• severely dysmorphic
• anterior cranium occultum
• trabecular basal plate is reduced to bony nodules or absent at E17.5
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• is reduced to bony nodules or absent at E17.5
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• laterally displaced and underdeveloped resulting in an abnormal opening in the skull
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• ramus is absent
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• 30% shorter than wild-type
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• laterally displaced at E17.5
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• laterally displaced at E17.5
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• laterally displaced at E17.5
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• the palatine bones are dysmorphic and do not extend towards the midline
• some small ectopic ossifications are found in the midline which may or may not be fragments of the palatine bones
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• presence of an abnormal skin-covered gap in the front of the head
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respiratory system
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• laterally displaced at E17.5
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• at E12.5, septum is evident as a bifid condensation and by E16.5 a duplicated nasal septum is present
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vision/eye
cellular
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• increased neural crest cell proliferation in the facial prominences, as shown by BrdU immunostaining
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growth/size/body
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• laterally displaced at E17.5
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• at E12.5, septum is evident as a bifid condensation and by E16.5 a duplicated nasal septum is present
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| dysostosis | DOID:1934 | J:158523 | ||
