Analysis Tools
mortality/aging
|
• maxilla deficiencies lead to poor feeding and death around one month of age
|
growth/size/body
malocclusion
(
J:181120
)
|
• dental occlusion is misaligned with severe midface hypoplasia requiring trimming of the lower incisors weekly
|
|
• midfacial hypoplasia resulting in a reduction in anterior facial width
|
|
• the palatal dimensions are proportionally smaller, however the structural components are in tact
• mutants exhibit reduced proliferation in the palate shelves at E14.5 and in the adjacent palatal epithelium
• mutants exhibit reduced hyaluronic acid in the palate shelves at E14.5
• mutants exhibit aberrant vascular pattering in the palate including reduced vascular branching at E14.5 and E15.5
|
|
• at E14.5, palatal shelf elevation above the tongue occurs normally but palatal elongation is reduced anteriorly, whereas the posterior palate shelf length is unaffected
• mutants exhibit delayed palatal shelf elongation
• some E15.5 mutants show delayed palate shelf apposition and the persistence of the epithelial seam, however palate fusion occurs in all mutants
|
|
• palate shelf height is reduced in both the anterior and posterior regions
|
craniofacial
malocclusion
(
J:181120
)
|
• dental occlusion is misaligned with severe midface hypoplasia requiring trimming of the lower incisors weekly
|
|
• shortened maxillary regions; anterior-posterior facial length is normal at P0 but over time the mutants exhibit smaller maxillary lengths
• the inframaxillary length and the posterior-anterior length are reduced
|
|
• midfacial hypoplasia resulting in a reduction in anterior facial width
|
|
• the palatal dimensions are proportionally smaller, however the structural components are in tact
• mutants exhibit reduced proliferation in the palate shelves at E14.5 and in the adjacent palatal epithelium
• mutants exhibit reduced hyaluronic acid in the palate shelves at E14.5
• mutants exhibit aberrant vascular pattering in the palate including reduced vascular branching at E14.5 and E15.5
|
|
• at E14.5, palatal shelf elevation above the tongue occurs normally but palatal elongation is reduced anteriorly, whereas the posterior palate shelf length is unaffected
• mutants exhibit delayed palatal shelf elongation
• some E15.5 mutants show delayed palate shelf apposition and the persistence of the epithelial seam, however palate fusion occurs in all mutants
|
|
• palate shelf height is reduced in both the anterior and posterior regions
|
skeleton
malocclusion
(
J:181120
)
|
• dental occlusion is misaligned with severe midface hypoplasia requiring trimming of the lower incisors weekly
|
|
• shortened maxillary regions; anterior-posterior facial length is normal at P0 but over time the mutants exhibit smaller maxillary lengths
• the inframaxillary length and the posterior-anterior length are reduced
|
behavior/neurological
|
• mutants exhibit poor feeding after 30 days of age due to malocclusion and require soft mouse chow
|
cardiovascular system
|
• mutants exhibit aberrant vascular pattering in the palate; reduced vascular branching in the palate at E14.5 and E15.5, reduced vasculature organization and vessel size, poor vascular smooth muscle investment, and irregular vessel formation
|
digestive/alimentary system
|
• the palatal dimensions are proportionally smaller, however the structural components are in tact
• mutants exhibit reduced proliferation in the palate shelves at E14.5 and in the adjacent palatal epithelium
• mutants exhibit reduced hyaluronic acid in the palate shelves at E14.5
• mutants exhibit aberrant vascular pattering in the palate including reduced vascular branching at E14.5 and E15.5
|
|
• at E14.5, palatal shelf elevation above the tongue occurs normally but palatal elongation is reduced anteriorly, whereas the posterior palate shelf length is unaffected
• mutants exhibit delayed palatal shelf elongation
• some E15.5 mutants show delayed palate shelf apposition and the persistence of the epithelial seam, however palate fusion occurs in all mutants
|
|
• palate shelf height is reduced in both the anterior and posterior regions
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Alagille syndrome | DOID:9245 |
OMIM:118450 OMIM:610205 |
J:181120 | |
