Phenotypes Associated with This Genotype

Genotype
MGI:7338976

• Allelic Composition: Kdm6b^tm1.1Rbo/Kdm6b^tm1.1Rbo; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J * CBA/J

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

mortality/aging

neonatal lethality, complete penetrance ( J:323190 )

craniofacial

maxillary shelf hypoplasia ( J:323190 )

palatine bone horizontal plate hypoplasia ( J:323190 )

abnormal palate development ( J:323190 )

• defects in palate development are detected by E14.5

abnormal palatal mesenchymal cell differentiation ( J:323190 )

• impaired osteogenic differentiation of palatal mesenchymal cells

abnormal palatal mesenchymal cell proliferation ( J:323190 )

• hyperproliferation of cranial neural crest-derived palatal mesenchymal cells

palatal shelf hypoplasia ( J:323190 )

• palatal shelves elevate but fail to extend towards the midline

• maxilla and palatine bones, palatal stromal mesenchyme and soft palate muscles are all affected

abnormal soft palate morphology ( J:323190 )

• abnormal orientation of the pterygoid plate

abnormal soft palate muscle morphology ( J:323190 )

• muscle fiber orientation is disturbed

complete cleft palate ( J:323190 )

• complete cleft with 90% penetrance

• treatment with Nutlin-3, an MDM2 inhibitor, rescued cleft palate in 3 of 5 mice

flat head ( J:323190 )

• minor flattened skull

cellular

abnormal cell physiology ( J:323190 )

• palatal mesenchymal cells show increased signs of DNA damage potentially due to replication stress

muscle

abnormal soft palate muscle morphology ( J:323190 )

• muscle fiber orientation is disturbed

skeleton

maxillary shelf hypoplasia ( J:323190 )

palatine bone horizontal plate hypoplasia ( J:323190 )

digestive/alimentary system

maxillary shelf hypoplasia ( J:323190 )

palatine bone horizontal plate hypoplasia ( J:323190 )

abnormal palate development ( J:323190 )

• defects in palate development are detected by E14.5

abnormal palatal mesenchymal cell differentiation ( J:323190 )

• impaired osteogenic differentiation of palatal mesenchymal cells

abnormal palatal mesenchymal cell proliferation ( J:323190 )

• hyperproliferation of cranial neural crest-derived palatal mesenchymal cells

palatal shelf hypoplasia ( J:323190 )

• palatal shelves elevate but fail to extend towards the midline

• maxilla and palatine bones, palatal stromal mesenchyme and soft palate muscles are all affected

abnormal soft palate morphology ( J:323190 )

• abnormal orientation of the pterygoid plate

abnormal soft palate muscle morphology ( J:323190 )

• muscle fiber orientation is disturbed

complete cleft palate ( J:323190 )

• complete cleft with 90% penetrance

• treatment with Nutlin-3, an MDM2 inhibitor, rescued cleft palate in 3 of 5 mice

growth/size/body

maxillary shelf hypoplasia ( J:323190 )

palatine bone horizontal plate hypoplasia ( J:323190 )

abnormal palate development ( J:323190 )

• defects in palate development are detected by E14.5

abnormal palatal mesenchymal cell differentiation ( J:323190 )

• impaired osteogenic differentiation of palatal mesenchymal cells

abnormal palatal mesenchymal cell proliferation ( J:323190 )

• hyperproliferation of cranial neural crest-derived palatal mesenchymal cells

palatal shelf hypoplasia ( J:323190 )

• palatal shelves elevate but fail to extend towards the midline

• maxilla and palatine bones, palatal stromal mesenchyme and soft palate muscles are all affected

abnormal soft palate morphology ( J:323190 )

• abnormal orientation of the pterygoid plate

abnormal soft palate muscle morphology ( J:323190 )

• muscle fiber orientation is disturbed

complete cleft palate ( J:323190 )

• complete cleft with 90% penetrance

• treatment with Nutlin-3, an MDM2 inhibitor, rescued cleft palate in 3 of 5 mice

flat head ( J:323190 )

• minor flattened skull