Mouse Genome Informatics
cn
    Jag1tm2Grid/Jag1tm2Grid
Tg(Wnt1-cre)11Rth/0

involves: 129S1/Sv * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• maxilla deficiencies lead to poor feeding and death around one month of age

growth/size/body
• 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
• midfacial hypoplasia resulting in a reduction in anterior facial width

craniofacial
• 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
• dental occlusion is misaligned with severe midface hypoplasia requiring trimming of the lower incisors weekly
• 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
• midfacial hypoplasia resulting in a reduction in anterior facial width

skeleton
• 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
• dental occlusion is misaligned with severe midface hypoplasia requiring trimming of the lower incisors weekly

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
OMIM IDRef(s)
Alagille Syndrome 1; ALGS1 118450 J:181120