mortality/aging
• survival is extended past E13.5 to E18.5 by treatment of pregnant dams with isoproterenol and phenylephrine
|
craniofacial
• dysmorphic at E16.5
• at E13.5 there is a gap in the left Meckel's cartilage of varying length with the symphysis curved downward
• at E13.5 there is also a smaller gap in the right Meckel's cartilage
|
• narrow jaw region at E18.5
• amount of proximal craniofacial bone present is asymmetric
• at E16.5 mandible and maxilla skew to the left side
|
• upper and lower molar development appears to arrest at the early bud stage
|
• mandibular condyles are absent
|
• at E18.5
|
• at E18.5 most of the proximal mandible is missing
|
• evident at E16.5
|
• at E18.5 most of the proximal maxilla is missing
|
• at E16.5 the maxilla is present but hypoplastic
|
micrognathia
(
J:310312
)
• at E18.5
|
• the distal mandible is fused to the maxilla
|
• the jugal bone fails to extend posteriorly at E16.5, instead extending caudally and fusing with the mandible
|
• dysmorphic
|
• dysmorphic
|
• dysmorphic
|
• dysmorphic
|
• at E13.5 palatal shelves are not apparent suggesting a delay in development
|
• decrease in the number of mesenchymal cells at E9.5
|
• asymmetric reduction in proximal craniofacial bone resembles microsomia
|
• at E18.5
• distal microstomia is seen as early as E13.5
|
• the distal oral cavity is almost completely closed with oral ectoderm at E16.5
|
cleft palate
(
J:310312
)
• the right palatal shelf is not elevated and the left shelf is absent
|
• hypoplastic with disorganized connective tissue and muscle fibers
|
cellular
• expression analysis indicates that a subset of neural crest cells either fail to reach the arches or have disrupted expression patterns
|
nervous system
• most of the maxillary branch is absent
|
• abnormal branching
|
embryo
• expression analysis indicates that a subset of neural crest cells either fail to reach the arches or have disrupted expression patterns
|
• decrease in the number of mesenchymal cells at E9.5
|
hearing/vestibular/ear
• dysmorphic
|
• dysmorphic
|
• dysmorphic
|
• dysmorphic
|
• dysmorphic
|
digestive/alimentary system
• at E13.5 palatal shelves are not apparent suggesting a delay in development
|
cleft palate
(
J:310312
)
• the right palatal shelf is not elevated and the left shelf is absent
|
• hypoplastic with disorganized connective tissue and muscle fibers
|
growth/size/body
• upper and lower molar development appears to arrest at the early bud stage
|
• at E13.5 palatal shelves are not apparent suggesting a delay in development
|
• asymmetric reduction in proximal craniofacial bone resembles microsomia
|
• at E18.5
• distal microstomia is seen as early as E13.5
|
• the distal oral cavity is almost completely closed with oral ectoderm at E16.5
|
cleft palate
(
J:310312
)
• the right palatal shelf is not elevated and the left shelf is absent
|
• hypoplastic with disorganized connective tissue and muscle fibers
|
skeleton
• dysmorphic at E16.5
• at E13.5 there is a gap in the left Meckel's cartilage of varying length with the symphysis curved downward
• at E13.5 there is also a smaller gap in the right Meckel's cartilage
|
• narrow jaw region at E18.5
• amount of proximal craniofacial bone present is asymmetric
• at E16.5 mandible and maxilla skew to the left side
|
• upper and lower molar development appears to arrest at the early bud stage
|
• mandibular condyles are absent
|
• at E18.5
|
• at E18.5 most of the proximal mandible is missing
|
• evident at E16.5
|
• at E18.5 most of the proximal maxilla is missing
|
• at E16.5 the maxilla is present but hypoplastic
|
micrognathia
(
J:310312
)
• at E18.5
|
• the distal mandible is fused to the maxilla
|
• the jugal bone fails to extend posteriorly at E16.5, instead extending caudally and fusing with the mandible
|
• dysmorphic
|
• dysmorphic
|
• dysmorphic
|
• dysmorphic
|