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Phenotypes Associated with This Genotype
Genotype
MGI:7339125
Allelic
Composition
Fgfr1tm1Jpa/Fgfr1tm1Jpa
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1tm1Jpa mutation (0 available); any Fgfr1 mutation (219 available)
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• embryos exhibit severe tooth bud defects
• development of medial nasal processes is impaired
• cell proliferation is delayed in the mesenchymal compartment of palate shelves; BrdU incorporation assays showed reduced cell proliferation at E12.5-13.5 but enhanced proliferation at E14.5
• immunostaining of coronal sections of E14.5 embryos with anti-phosphorylated Smad1/5/8 showed increased BMP signaling especially in the anterior part of palate shelves
• cell proliferation is delayed in both the epithelial and mesenchymal compartments of palate shelves; BrdU incorporation assays showed reduced cell proliferation at E12.5-13.5 but enhanced proliferation at E14.5
• at E14.5, palatal shelves are widely separated allowing direct view of the presphenoid bone
• ex vivo, dissected E13.5 palate shelves placed in proximal apposition do fuse after 2 days in culture but the gap between the two shelves is not fully filled by mesenchymal cells and a fraction of midline epithelial seam is still present while expression of epithelial cytokeratins is not completely eliminated in the medial edge epithelium (MEE), unlike in control palate shelves
• degeneration of the MEE is compromised, as shown by less defused E-cadherin staining and a lower number of TUNEL+ apoptotic cells in MEE cells at E14.5 and reduced expression of Tgfb3 at E13.5
• palate shelves appear smaller at E13.5
• complete cleft lip observed at E14.5 and P0
• complete cleft primary palate observed at E14.5 and P0
• partially formed palate rugae observed at P0
• complete secondary palate observed at E14.5 and P0
• palate shelves continue to grow downward at both anterior and posterior positions at E14.5 and fail to elevate and complete fusion even at E15.5
• tongue position is heightened at E14.5

digestive/alimentary system
• cell proliferation is delayed in the mesenchymal compartment of palate shelves; BrdU incorporation assays showed reduced cell proliferation at E12.5-13.5 but enhanced proliferation at E14.5
• immunostaining of coronal sections of E14.5 embryos with anti-phosphorylated Smad1/5/8 showed increased BMP signaling especially in the anterior part of palate shelves
• cell proliferation is delayed in both the epithelial and mesenchymal compartments of palate shelves; BrdU incorporation assays showed reduced cell proliferation at E12.5-13.5 but enhanced proliferation at E14.5
• at E14.5, palatal shelves are widely separated allowing direct view of the presphenoid bone
• ex vivo, dissected E13.5 palate shelves placed in proximal apposition do fuse after 2 days in culture but the gap between the two shelves is not fully filled by mesenchymal cells and a fraction of midline epithelial seam is still present while expression of epithelial cytokeratins is not completely eliminated in the medial edge epithelium (MEE), unlike in control palate shelves
• degeneration of the MEE is compromised, as shown by less defused E-cadherin staining and a lower number of TUNEL+ apoptotic cells in MEE cells at E14.5 and reduced expression of Tgfb3 at E13.5
• palate shelves appear smaller at E13.5
• complete cleft primary palate observed at E14.5 and P0
• partially formed palate rugae observed at P0
• complete secondary palate observed at E14.5 and P0
• palate shelves continue to grow downward at both anterior and posterior positions at E14.5 and fail to elevate and complete fusion even at E15.5
• tongue position is heightened at E14.5

growth/size/body
• embryos exhibit severe tooth bud defects
• cell proliferation is delayed in the mesenchymal compartment of palate shelves; BrdU incorporation assays showed reduced cell proliferation at E12.5-13.5 but enhanced proliferation at E14.5
• immunostaining of coronal sections of E14.5 embryos with anti-phosphorylated Smad1/5/8 showed increased BMP signaling especially in the anterior part of palate shelves
• cell proliferation is delayed in both the epithelial and mesenchymal compartments of palate shelves; BrdU incorporation assays showed reduced cell proliferation at E12.5-13.5 but enhanced proliferation at E14.5
• at E14.5, palatal shelves are widely separated allowing direct view of the presphenoid bone
• ex vivo, dissected E13.5 palate shelves placed in proximal apposition do fuse after 2 days in culture but the gap between the two shelves is not fully filled by mesenchymal cells and a fraction of midline epithelial seam is still present while expression of epithelial cytokeratins is not completely eliminated in the medial edge epithelium (MEE), unlike in control palate shelves
• degeneration of the MEE is compromised, as shown by less defused E-cadherin staining and a lower number of TUNEL+ apoptotic cells in MEE cells at E14.5 and reduced expression of Tgfb3 at E13.5
• palate shelves appear smaller at E13.5
• complete cleft lip observed at E14.5 and P0
• complete cleft primary palate observed at E14.5 and P0
• partially formed palate rugae observed at P0
• complete secondary palate observed at E14.5 and P0
• palate shelves continue to grow downward at both anterior and posterior positions at E14.5 and fail to elevate and complete fusion even at E15.5
• tongue position is heightened at E14.5

skeleton
• embryos exhibit severe tooth bud defects


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/06/2026
MGI 6.24
The Jackson Laboratory