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Phenotypes Associated with This Genotype
Genotype
MGI:5827939
Allelic
Composition
Sox11tm1.1Gan/Sox11tm1.1Gan
Tg(EIIa-cre)C5379Lmgd/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox11tm1.1Gan mutation (0 available); any Sox11 mutation (7 available)
Tg(EIIa-cre)C5379Lmgd mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Sox11tm1.1Gan/Sox11tm1.1Gan Tg(EIIa-cre)C5379Lmgd/0 mutants display cleft palate with retardation to palatal shelf elevation

craniofacial
• 100% penetrance of craniofacial malformations
• the mandible shows decreased proliferation in mesenchymal cells in and around the Meckel cartilage at E13.5
• mandible is narrow and small
• reduction in mandibular length at E13.5
• reduction in Meckel cartilage size at E13.5
• delay in elevation of palatal shelves resulting in retardation of palatal shelf formation
• the palatal shelves become regressed at the proximal portion, resulting in reduction in the size of the palatal shelves at E15.5
• 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
• cleft lip in 70% of mutants
• complete clefting of the secondary palate
• the bilateral palatal shelves of E14.5 embryos fails to elevate and remains 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
• tongue position remains heightened during palatal elevation by E14.5 along the anterior-posterior axis causing physical retardation of palatal elevation

digestive/alimentary system
• delay in elevation of palatal shelves resulting in retardation of palatal shelf formation
• the palatal shelves become regressed at the proximal portion, resulting in reduction in the size of the palatal shelves at E15.5
• 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
• complete clefting of the secondary palate
• the bilateral palatal shelves of E14.5 embryos fails to elevate and remains 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
• tongue position remains heightened during palatal elevation by E14.5 along the anterior-posterior axis causing physical retardation of palatal elevation

growth/size/body
• delay in elevation of palatal shelves resulting in retardation of palatal shelf formation
• the palatal shelves become regressed at the proximal portion, resulting in reduction in the size of the palatal shelves at E15.5
• 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
• cleft lip in 70% of mutants
• complete clefting of the secondary palate
• the bilateral palatal shelves of E14.5 embryos fails to elevate and remains 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
• tongue position remains heightened during palatal elevation by E14.5 along the anterior-posterior axis causing physical retardation of palatal elevation

skeleton
• the mandible shows decreased proliferation in mesenchymal cells in and around the Meckel cartilage at E13.5
• mandible is narrow and small
• reduction in mandibular length at E13.5
• reduction in Meckel cartilage size at E13.5

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/07/2017
MGI 6.11
The Jackson Laboratory