Phenotypes associated with this allele

• Allele Symbol: Tbx22^tm1.1Sta
• Allele Name: targeted mutation 1.1, Philip Stanier
• Allele ID: MGI:4361267
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tbx22^tm1.1Sta/Tbx22^tm1.1Sta	involves: 129 * CD-1	MGI:4361283
ot2	Tbx22^tm1.1Sta/Y	involves: 129/Sv * CD-1	MGI:4361326

Genotype
MGI:4361283

hm1

• Allelic Composition: Tbx22^tm1.1Sta/Tbx22^tm1.1Sta
• Genetic Background: involves: 129 * CD-1

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:153100 )

♀ • approximately 50% die within 24 h struggling to breathe and/or failing to suckle effectively

respiratory system

choanal atresia ( J:153100 )

♀ • persistent oro-nasal membranes or, in some mice a partial rupture, resulting in choanal atresia

respiratory distress ( J:153100 )

♀ • approximately 50% struggle to breathe

craniofacial

decreased palatine bone horizontal plate size ( J:153100 )

♀ • reduced palatine process of the palatal bone (68%) at E18.5

abnormal vomer bone morphology ( J:153100 )

♀ • vomer has not fused in the midline at E18.5

♀ • however, the craniofacial skeleton surrounding the vomer is normal at E18.5

small vomer bone ( J:153100 )

♀ • reduced size (74%) vomer at E18.5

palate bone hypoplasia ( J:153100 )

♀ • fusion along the entire anterior-posterior axis is complete at E15.5

♀ • severely reduced bone formation in the posterior hard palate at E15.5

persistent oronasal membrane ( J:153100 )

♀

abnormal palatal rugae morphology ( J:153100 )

♀ • aberrant pattern of rugae, combined with an area of translucency in the posterior portion

cleft secondary palate ( J:153100 )

♀ • 2 of 30 mice show an overt cleft palate

tongue ankylosis ( J:153100 )

♀ • anterior caudal attachment of the tongue to the mandible at E15.5

choanal atresia ( J:153100 )

♀ • persistent oro-nasal membranes or, in some mice a partial rupture, resulting in choanal atresia

skeleton

abnormal osteoblast differentiation ( J:153100 )

♀ • Alkaline phosphatase activity in the palate is significantly reduced

♀ • Alkaline phosphatase activity in the mandible and anterior regions of the palate is normal

♀ • reduced number of differentiated osteoblasts at E15.5

♀ • differentiation of the osteoblasts delays at least one day

decreased palatine bone horizontal plate size ( J:153100 )

♀ • reduced palatine process of the palatal bone (68%) at E18.5

abnormal vomer bone morphology ( J:153100 )

♀ • vomer has not fused in the midline at E18.5

♀ • however, the craniofacial skeleton surrounding the vomer is normal at E18.5

small vomer bone ( J:153100 )

♀ • reduced size (74%) vomer at E18.5

palate bone hypoplasia ( J:153100 )

♀ • fusion along the entire anterior-posterior axis is complete at E15.5

♀ • severely reduced bone formation in the posterior hard palate at E15.5

abnormal bone mineralization ( J:153100 )

♀ • reduced mineralization of the palatine bone at E18.5

♀ • complete lack of mineralization of the bones of the head at E15.5

abnormal intramembranous bone ossification ( J:153100 )

♀ • severely reduced bone ossification in the posterior hard palate at E15.5

digestive/alimentary system

decreased palatine bone horizontal plate size ( J:153100 )

♀ • reduced palatine process of the palatal bone (68%) at E18.5

palate bone hypoplasia ( J:153100 )

♀ • fusion along the entire anterior-posterior axis is complete at E15.5

♀ • severely reduced bone formation in the posterior hard palate at E15.5

persistent oronasal membrane ( J:153100 )

♀

abnormal palatal rugae morphology ( J:153100 )

♀ • aberrant pattern of rugae, combined with an area of translucency in the posterior portion

cleft secondary palate ( J:153100 )

♀ • 2 of 30 mice show an overt cleft palate

tongue ankylosis ( J:153100 )

♀ • anterior caudal attachment of the tongue to the mandible at E15.5

cellular

abnormal osteoblast differentiation ( J:153100 )

♀ • Alkaline phosphatase activity in the palate is significantly reduced

♀ • Alkaline phosphatase activity in the mandible and anterior regions of the palate is normal

♀ • reduced number of differentiated osteoblasts at E15.5

♀ • differentiation of the osteoblasts delays at least one day

growth/size/body

decreased palatine bone horizontal plate size ( J:153100 )

♀ • reduced palatine process of the palatal bone (68%) at E18.5

palate bone hypoplasia ( J:153100 )

♀ • fusion along the entire anterior-posterior axis is complete at E15.5

♀ • severely reduced bone formation in the posterior hard palate at E15.5

persistent oronasal membrane ( J:153100 )

♀

abnormal palatal rugae morphology ( J:153100 )

♀ • aberrant pattern of rugae, combined with an area of translucency in the posterior portion

cleft secondary palate ( J:153100 )

♀ • 2 of 30 mice show an overt cleft palate

tongue ankylosis ( J:153100 )

♀ • anterior caudal attachment of the tongue to the mandible at E15.5

choanal atresia ( J:153100 )

♀ • persistent oro-nasal membranes or, in some mice a partial rupture, resulting in choanal atresia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked cleft palate with or without ankyloglossia		DOID:0060613	OMIM:303400	J:153100

Genotype
MGI:4361326

ot2

• Allelic Composition: Tbx22^tm1.1Sta/Y
• Genetic Background: involves: 129/Sv * CD-1

mortality/aging

perinatal lethality, incomplete penetrance ( J:153100 )

♂ • approximately 50% die within 24 h struggling to breathe and/or failing to suckle effectively

respiratory system

choanal atresia ( J:153100 )

♂ • persistent oro-nasal membranes or, in some mice a partial rupture, resulting in choanal atresia

respiratory distress ( J:153100 )

♂ • approximately 50% struggle to breathe

craniofacial

decreased palatine bone horizontal plate size ( J:153100 )

♂ • reduced palatine process of the palatal bone (68%) at E18.5

abnormal vomer bone morphology ( J:153100 )

♂ • reduced size (74%) vomer at E18.5

♂ • vomer has not fused in the midline at E18.5

♂ • the craniofacial skeleton surrounding the vomer is normal at E18.5

palate bone hypoplasia ( J:153100 )

♂ • severely reduced bone formation in the posterior hard palate at E15.5

♂ • however, fusion of the palatal shelves along the entire anterior-posterior axis is complete at E15.5

persistent oronasal membrane ( J:153100 )

♂

abnormal palatal rugae morphology ( J:153100 )

♂ • aberrant pattern of rugae, combined with an area of translucency in the posterior portion

cleft secondary palate ( J:153100 )

♂ • 2 of 30 mice show an overt cleft palate (2/30)

tongue ankylosis ( J:153100 )

♂ • anterior caudal attachment of the tongue to the mandible at E15.5

choanal atresia ( J:153100 )

♂ • persistent oro-nasal membranes or, in some mice a partial rupture, resulting in choanal atresia

skeleton

abnormal osteoblast differentiation ( J:153100 )

♂ • Alkaline phosphatase activity in the palate is significantly reduced

♂ • reduced number of differentiated osteoblasts at E15.5

♂ • differentiation of the osteoblasts delays at least one day

♂ • Alkaline phosphatase activity in the mandible and anterior regions of the palate is normal

decreased palatine bone horizontal plate size ( J:153100 )

♂ • reduced palatine process of the palatal bone (68%) at E18.5

abnormal vomer bone morphology ( J:153100 )

♂ • reduced size (74%) vomer at E18.5

♂ • vomer has not fused in the midline at E18.5

♂ • the craniofacial skeleton surrounding the vomer is normal at E18.5

palate bone hypoplasia ( J:153100 )

♂ • severely reduced bone formation in the posterior hard palate at E15.5

♂ • however, fusion of the palatal shelves along the entire anterior-posterior axis is complete at E15.5

abnormal bone mineralization ( J:153100 )

♂ • reduced mineralization of the palatine bone at E18.5

♂ • complete lack of mineralization of the bones of the head at E15.5

abnormal intramembranous bone ossification ( J:153100 )

♂ • severely reduced bone ossification in the posterior hard palate at E15.5

digestive/alimentary system

decreased palatine bone horizontal plate size ( J:153100 )

♂ • reduced palatine process of the palatal bone (68%) at E18.5

palate bone hypoplasia ( J:153100 )

♂ • severely reduced bone formation in the posterior hard palate at E15.5

♂ • however, fusion of the palatal shelves along the entire anterior-posterior axis is complete at E15.5

persistent oronasal membrane ( J:153100 )

♂

abnormal palatal rugae morphology ( J:153100 )

♂ • aberrant pattern of rugae, combined with an area of translucency in the posterior portion

cleft secondary palate ( J:153100 )

♂ • 2 of 30 mice show an overt cleft palate (2/30)

tongue ankylosis ( J:153100 )

♂ • anterior caudal attachment of the tongue to the mandible at E15.5

cellular

abnormal osteoblast differentiation ( J:153100 )

♂ • Alkaline phosphatase activity in the palate is significantly reduced

♂ • reduced number of differentiated osteoblasts at E15.5

♂ • differentiation of the osteoblasts delays at least one day

♂ • Alkaline phosphatase activity in the mandible and anterior regions of the palate is normal

growth/size/body

decreased palatine bone horizontal plate size ( J:153100 )

♂ • reduced palatine process of the palatal bone (68%) at E18.5

palate bone hypoplasia ( J:153100 )

♂ • severely reduced bone formation in the posterior hard palate at E15.5

♂ • however, fusion of the palatal shelves along the entire anterior-posterior axis is complete at E15.5

persistent oronasal membrane ( J:153100 )

♂

abnormal palatal rugae morphology ( J:153100 )

♂ • aberrant pattern of rugae, combined with an area of translucency in the posterior portion

cleft secondary palate ( J:153100 )

♂ • 2 of 30 mice show an overt cleft palate (2/30)

tongue ankylosis ( J:153100 )

♂ • anterior caudal attachment of the tongue to the mandible at E15.5

choanal atresia ( J:153100 )

♂ • persistent oro-nasal membranes or, in some mice a partial rupture, resulting in choanal atresia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked cleft palate with or without ankyloglossia		DOID:0060613	OMIM:303400	J:153100