Phenotypes Associated with This Genotype

Genotype
MGI:5827939

• Allelic Composition: Sox11^tm1.1Gan/Sox11^tm1.1Gan; Tg(EIIa-cre)C5379Lmgd/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

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

Sox11^tm1.1Gan/Sox11^tm1.1Gan Tg(EIIa-cre)C5379Lmgd/0 mutants display cleft palate with retardation to palatal shelf elevation

craniofacial

abnormal craniofacial morphology ( J:232434 )

• 100% penetrance of craniofacial malformations

small Meckel's cartilage ( J:232434 )

• reduction in Meckel cartilage size at E13.5

abnormal mandible morphology ( J:232434 )

• the mandible shows decreased proliferation in mesenchymal cells in and around the Meckel cartilage at E13.5

mandible hypoplasia ( J:232434 )

• mandible is narrow and small

short mandible ( J:232434 )

• reduction in mandibular length at E13.5

abnormal palatal mesenchymal cell proliferation ( J:232434 )

• a 25% reduction in palatal mesenchyme is seen at E13.5

• mesenchymal cell proliferation is reduced in the proximal bend region of the palatal shelf at E13.5

abnormal secondary palate development ( J:232434 )

• delay in elevation of palatal shelves resulting in retardation of palatal shelf formation

• a 25% reduction in palatal mesenchyme is seen at E13.5

• a 19% reduction in palatal epithelial cells is seen at E13.5

• proliferation of both epithelial and mesenchymal cells in the proximal bend region of the palatal shelf is reduced at E13.5

• however, the fusion mechanism of palatal shelves is not disrupted; bilateral palatal shelves grown in culture on Nucleopore filters show complete fusion

decreased palatal shelf size ( J:232434 )

• the palatal shelves become regressed at the proximal portion, resulting in reduction in the size of the palatal shelves at E15.5

cleft upper lip ( J:232434 )

• cleft lip in 70% of mutants

cleft secondary palate ( J:232434 )

• complete clefting of the secondary palate

delayed palatal shelf elevation ( J:232434 )

• the bilateral palatal shelves of E14.5 embryos fail to elevate and remain at the vertical position at E14.5 and E15.5 although occasional elevation of one or both sides of the palatal shelves occurs in later stages

• however, initial downward growth of palatal shelves occurs normally at E11.5, E12.5, and E13.5

• in vitro organ culture of E13.5 head with mandible or tongue removed in roller bottles show that palatal shelves are able to elevate after 24 hours in rolling culture

abnormal tongue position ( J:232434 )

• tongue position remains heightened during palatal elevation by E14.5 along the anterior-posterior axis causing physical retardation of palatal elevation

digestive/alimentary system

abnormal palatal mesenchymal cell proliferation ( J:232434 )

• a 25% reduction in palatal mesenchyme is seen at E13.5

• mesenchymal cell proliferation is reduced in the proximal bend region of the palatal shelf at E13.5

abnormal secondary palate development ( J:232434 )

• delay in elevation of palatal shelves resulting in retardation of palatal shelf formation

• a 25% reduction in palatal mesenchyme is seen at E13.5

• a 19% reduction in palatal epithelial cells is seen at E13.5

• proliferation of both epithelial and mesenchymal cells in the proximal bend region of the palatal shelf is reduced at E13.5

• however, the fusion mechanism of palatal shelves is not disrupted; bilateral palatal shelves grown in culture on Nucleopore filters show complete fusion

decreased palatal shelf size ( J:232434 )

• the palatal shelves become regressed at the proximal portion, resulting in reduction in the size of the palatal shelves at E15.5

cleft secondary palate ( J:232434 )

• complete clefting of the secondary palate

delayed palatal shelf elevation ( J:232434 )

• the bilateral palatal shelves of E14.5 embryos fail to elevate and remain at the vertical position at E14.5 and E15.5 although occasional elevation of one or both sides of the palatal shelves occurs in later stages

• however, initial downward growth of palatal shelves occurs normally at E11.5, E12.5, and E13.5

• in vitro organ culture of E13.5 head with mandible or tongue removed in roller bottles show that palatal shelves are able to elevate after 24 hours in rolling culture

abnormal tongue position ( J:232434 )

• tongue position remains heightened during palatal elevation by E14.5 along the anterior-posterior axis causing physical retardation of palatal elevation

growth/size/body

abnormal palatal mesenchymal cell proliferation ( J:232434 )

• a 25% reduction in palatal mesenchyme is seen at E13.5

• mesenchymal cell proliferation is reduced in the proximal bend region of the palatal shelf at E13.5

abnormal secondary palate development ( J:232434 )

• delay in elevation of palatal shelves resulting in retardation of palatal shelf formation

• a 25% reduction in palatal mesenchyme is seen at E13.5

• a 19% reduction in palatal epithelial cells is seen at E13.5

• proliferation of both epithelial and mesenchymal cells in the proximal bend region of the palatal shelf is reduced at E13.5

• however, the fusion mechanism of palatal shelves is not disrupted; bilateral palatal shelves grown in culture on Nucleopore filters show complete fusion

decreased palatal shelf size ( J:232434 )

• the palatal shelves become regressed at the proximal portion, resulting in reduction in the size of the palatal shelves at E15.5

cleft upper lip ( J:232434 )

• cleft lip in 70% of mutants

cleft secondary palate ( J:232434 )

• complete clefting of the secondary palate

delayed palatal shelf elevation ( J:232434 )

• the bilateral palatal shelves of E14.5 embryos fail to elevate and remain at the vertical position at E14.5 and E15.5 although occasional elevation of one or both sides of the palatal shelves occurs in later stages

• however, initial downward growth of palatal shelves occurs normally at E11.5, E12.5, and E13.5

• in vitro organ culture of E13.5 head with mandible or tongue removed in roller bottles show that palatal shelves are able to elevate after 24 hours in rolling culture

abnormal tongue position ( J:232434 )

• tongue position remains heightened during palatal elevation by E14.5 along the anterior-posterior axis causing physical retardation of palatal elevation

skeleton

small Meckel's cartilage ( J:232434 )

• reduction in Meckel cartilage size at E13.5

abnormal mandible morphology ( J:232434 )

• the mandible shows decreased proliferation in mesenchymal cells in and around the Meckel cartilage at E13.5

mandible hypoplasia ( J:232434 )

• mandible is narrow and small

short mandible ( J:232434 )

• reduction in mandibular length at E13.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Weissenbacher-Zweymuller syndrome		DOID:4258	OMIM:261800	J:232434