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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Kdm6btm1.1Rbo
targeted mutation 1.1, Remy Bosselut
MGI:5796917
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
 		Ezh2tm2Sho/Ezh2+
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Kdm6btm1.1Rbo/Kdm6btm1.1Rbo 		involves: 129S1/Sv * 129S4/SvJae * C57BL/6J * CBA/J MGI:7338996
cn2
 		Kdm6btm1.1Rbo/Kdm6btm1.1Rbo
Tg(KRT14-cre)1Amc/0 		involves: 129S4/SvJae * C57BL/6J * C57BL/6N * CBA MGI:7338978
cn3
 		Kdm6btm1.1Rbo/Kdm6btm1.1Rbo
H2az2Tg(Wnt1-cre)11Rth/H2az2+ 		involves: 129S4/SvJae * C57BL/6J * CBA/J MGI:7338976


Genotype
MGI:7338996
cn1
Allelic
Composition		 Ezh2tm2Sho/Ezh2+
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Kdm6btm1.1Rbo/Kdm6btm1.1Rbo
Genetic
Background		 involves: 129S1/Sv * 129S4/SvJae * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ezh2tm2Sho mutation (1 available); any Ezh2 mutation (72 available)
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
Kdm6btm1.1Rbo mutation (1 available); any Kdm6b mutation (67 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial
craniofacial phenotype ( J:323190 )
N
• development of the palatine processes of the maxilla and palatine bones and proliferation and differentiation of palatal mesenchymal cells are restored by conditional deletion of one copy of Ezh2 compared to mutant mice with wild-type Ezh2
cleft palate ( J:323190 )
• conditional deletion of one copy of Ezh2 rescues cleft palate with 70% efficiency

digestive/alimentary system
cleft palate ( J:323190 )
• conditional deletion of one copy of Ezh2 rescues cleft palate with 70% efficiency

growth/size/body
cleft palate ( J:323190 )
• conditional deletion of one copy of Ezh2 rescues cleft palate with 70% efficiency




Genotype
MGI:7338978
cn2
Allelic
Composition		 Kdm6btm1.1Rbo/Kdm6btm1.1Rbo
Tg(KRT14-cre)1Amc/0
Genetic
Background		 involves: 129S4/SvJae * C57BL/6J * C57BL/6N * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kdm6btm1.1Rbo mutation (1 available); any Kdm6b mutation (67 available)
Tg(KRT14-cre)1Amc mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial
craniofacial phenotype ( J:323190 )
N
• no obvious craniofacial abnormalities




Genotype
MGI:7338976
cn3
Allelic
Composition		 Kdm6btm1.1Rbo/Kdm6btm1.1Rbo
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background		 involves: 129S4/SvJae * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
Kdm6btm1.1Rbo mutation (1 available); any Kdm6b mutation (67 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging

craniofacial
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

digestive/alimentary system
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




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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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12/10/2024
MGI 6.24 		The Jackson Laboratory