craniofacial
• slight decrease of cell proliferation rate in the maxillo-mandibular junction at E12.5
• ectopic cell apoptosis in the maxillo-mandibular junction at E12.5
|
• temporomandibular joint agenesis
|
syngnathia
(
J:214763
)
• bony fusion of the jaws resembling congenital bony syngnathia is seen as early as E16.5
• the bony structures connecting the maxilla and mandible appear to derive from the posterior portion of the maxilla
|
• patterning of the secondary palate is disrupted; the anterior portion of the palatal shelves do not grow out from the maxilla at E13.5, and instead, a pair of palatal shelf-like structures originating from the mandible are seen, in a reverse direction with their tip pointing dorsally toward the nasal septum
• at E16.5, the palatal shelf-like structures remain separated and pointing dorsally along the tongue at the anterior level
• the mandibular protrusions are of palatal tissue origin
|
• palate shelves appear smaller at the posterior levels
|
• palate shelves are abnormally fused with the mandible
|
cleft palate
(
J:214763
)
short snout
(
J:214763
)
cellular
• increase in alkaline phosphatase (ALP) activity in the mandible and maxillo-mandibular junction at E12.5 and E13.5 indicating enhanced osteoblast differentiation
|
digestive/alimentary system
• patterning of the secondary palate is disrupted; the anterior portion of the palatal shelves do not grow out from the maxilla at E13.5, and instead, a pair of palatal shelf-like structures originating from the mandible are seen, in a reverse direction with their tip pointing dorsally toward the nasal septum
• at E16.5, the palatal shelf-like structures remain separated and pointing dorsally along the tongue at the anterior level
• the mandibular protrusions are of palatal tissue origin
|
• palate shelves appear smaller at the posterior levels
|
• palate shelves are abnormally fused with the mandible
|
cleft palate
(
J:214763
)
growth/size/body
• patterning of the secondary palate is disrupted; the anterior portion of the palatal shelves do not grow out from the maxilla at E13.5, and instead, a pair of palatal shelf-like structures originating from the mandible are seen, in a reverse direction with their tip pointing dorsally toward the nasal septum
• at E16.5, the palatal shelf-like structures remain separated and pointing dorsally along the tongue at the anterior level
• the mandibular protrusions are of palatal tissue origin
|
• palate shelves appear smaller at the posterior levels
|
• palate shelves are abnormally fused with the mandible
|
cleft palate
(
J:214763
)
short snout
(
J:214763
)
hearing/vestibular/ear
skeleton
• increase in alkaline phosphatase (ALP) activity in the mandible and maxillo-mandibular junction at E12.5 and E13.5 indicating enhanced osteoblast differentiation
|
• slight decrease of cell proliferation rate in the maxillo-mandibular junction at E12.5
• ectopic cell apoptosis in the maxillo-mandibular junction at E12.5
|
• temporomandibular joint agenesis
|
syngnathia
(
J:214763
)
• bony fusion of the jaws resembling congenital bony syngnathia is seen as early as E16.5
• the bony structures connecting the maxilla and mandible appear to derive from the posterior portion of the maxilla
|
vision/eye
respiratory system
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
cleft palate-lateral synechia syndrome | DOID:0080313 |
OMIM:119550 |
J:214763 |