Phenotypes Associated with This Genotype

Genotype
MGI:7461096

• Allelic Composition: Tg(CAG-LacZ,-ACVR1*,-EGFP)35-1Mis/0; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: C57BL/6 * CBA * DBA/2

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

neonatal lethality, complete penetrance ( J:233662 )

• all newborn pups die within 24 h of birth

behavior/neurological

absent gastric milk in neonates ( J:233662 )

• all newborn pups lack milk in their stomachs

craniofacial

abnormal primary and secondary palatal fusion ( J:233662 )

• the primary palate fails to fuse with the secondary palate

abnormal secondary palate development ( J:233662 )

• at E18.5, palatal shelves of the anterior secondary palate fail to fuse with each other and with the nasal septum

• in the middle part of the secondary palate, the fusion of mesenchymal tissue is impaired by the presence of an epithelial seam

• an epithelial cyst-like tissue is detected intermittently at the midline of hard palate and soft palate

persistence of medial edge epithelium during palatal shelf fusion ( J:233662 )

• although medial edge epithelium (MEE) seam formation is normal at E14.5, the MEE seam is not degraded at E15.5, unlike in control embryos

• TUNEL assays showed a significant reduction of apoptotic cells in MEE at E14.5; also, the expression level of cleaved caspase-3 is significantly reduced in MEE cells at E14.5

• downregulation of cell death is accompanied with upregulation of deltaNp63 in MEE at E14.5

• Ki67 staining showed a slight but significant increase of proliferating cells in MEE at E14.5 with continued ability of MEE cells to proliferate at E15.5

abnormal secondary palate morphology ( J:233662 )

• a white strip is found in the midline of the secondary palate including the soft palate

• however, cleft soft palate is not observed

abnormal hard palate morphology ( J:233662 )

• at E18.5, fusion of palatal mesenchyme in the hard palate is hampered by epithelial tissue

abnormal soft palate muscle morphology ( J:233662 )

• at E18.5, fusion of muscle fibers in the soft palate is hampered by epithelial tissue

abnormal tensor veli palatini muscle morphology ( J:233662 )

• at E18.5, an epithelial cyst-like tissue prevents the fusion of the tensor veli palatini muscle in the soft palate

submucous cleft palate ( J:233662 )

• mice develop submucous cleft palate (SMCP) without cleft soft palate

• SMCP is caused by abnormal medial edge epithelium persistence

digestive/alimentary system

abnormal primary and secondary palatal fusion ( J:233662 )

• the primary palate fails to fuse with the secondary palate

abnormal secondary palate development ( J:233662 )

• at E18.5, palatal shelves of the anterior secondary palate fail to fuse with each other and with the nasal septum

• in the middle part of the secondary palate, the fusion of mesenchymal tissue is impaired by the presence of an epithelial seam

• an epithelial cyst-like tissue is detected intermittently at the midline of hard palate and soft palate

persistence of medial edge epithelium during palatal shelf fusion ( J:233662 )

• although medial edge epithelium (MEE) seam formation is normal at E14.5, the MEE seam is not degraded at E15.5, unlike in control embryos

• TUNEL assays showed a significant reduction of apoptotic cells in MEE at E14.5; also, the expression level of cleaved caspase-3 is significantly reduced in MEE cells at E14.5

• downregulation of cell death is accompanied with upregulation of deltaNp63 in MEE at E14.5

• Ki67 staining showed a slight but significant increase of proliferating cells in MEE at E14.5 with continued ability of MEE cells to proliferate at E15.5

abnormal secondary palate morphology ( J:233662 )

• a white strip is found in the midline of the secondary palate including the soft palate

• however, cleft soft palate is not observed

abnormal hard palate morphology ( J:233662 )

• at E18.5, fusion of palatal mesenchyme in the hard palate is hampered by epithelial tissue

abnormal soft palate muscle morphology ( J:233662 )

• at E18.5, fusion of muscle fibers in the soft palate is hampered by epithelial tissue

abnormal tensor veli palatini muscle morphology ( J:233662 )

• at E18.5, an epithelial cyst-like tissue prevents the fusion of the tensor veli palatini muscle in the soft palate

submucous cleft palate ( J:233662 )

• mice develop submucous cleft palate (SMCP) without cleft soft palate

• SMCP is caused by abnormal medial edge epithelium persistence

growth/size/body

abnormal primary and secondary palatal fusion ( J:233662 )

• the primary palate fails to fuse with the secondary palate

abnormal secondary palate development ( J:233662 )

• at E18.5, palatal shelves of the anterior secondary palate fail to fuse with each other and with the nasal septum

• in the middle part of the secondary palate, the fusion of mesenchymal tissue is impaired by the presence of an epithelial seam

• an epithelial cyst-like tissue is detected intermittently at the midline of hard palate and soft palate

persistence of medial edge epithelium during palatal shelf fusion ( J:233662 )

• although medial edge epithelium (MEE) seam formation is normal at E14.5, the MEE seam is not degraded at E15.5, unlike in control embryos

• TUNEL assays showed a significant reduction of apoptotic cells in MEE at E14.5; also, the expression level of cleaved caspase-3 is significantly reduced in MEE cells at E14.5

• downregulation of cell death is accompanied with upregulation of deltaNp63 in MEE at E14.5

• Ki67 staining showed a slight but significant increase of proliferating cells in MEE at E14.5 with continued ability of MEE cells to proliferate at E15.5

abnormal secondary palate morphology ( J:233662 )

• a white strip is found in the midline of the secondary palate including the soft palate

• however, cleft soft palate is not observed

abnormal hard palate morphology ( J:233662 )

• at E18.5, fusion of palatal mesenchyme in the hard palate is hampered by epithelial tissue

abnormal soft palate muscle morphology ( J:233662 )

• at E18.5, fusion of muscle fibers in the soft palate is hampered by epithelial tissue

abnormal tensor veli palatini muscle morphology ( J:233662 )

• at E18.5, an epithelial cyst-like tissue prevents the fusion of the tensor veli palatini muscle in the soft palate

submucous cleft palate ( J:233662 )

• mice develop submucous cleft palate (SMCP) without cleft soft palate

• SMCP is caused by abnormal medial edge epithelium persistence

muscle

abnormal soft palate muscle morphology ( J:233662 )

• at E18.5, fusion of muscle fibers in the soft palate is hampered by epithelial tissue

abnormal tensor veli palatini muscle morphology ( J:233662 )

• at E18.5, an epithelial cyst-like tissue prevents the fusion of the tensor veli palatini muscle in the soft palate

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cleft palate		DOID:674		J:233662