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Phenotypes Associated with This Genotype
Genotype
MGI:4361326
Allelic
Composition
Tbx22tm1.1Sta/Y
Genetic
Background
involves: 129/Sv * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx22tm1.1Sta mutation (0 available); any Tbx22 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• approximately 50% die within 24 h struggling to breathe and/or failing to suckle effectively

respiratory system
• persistent oro-nasal membranes or, in some mice a partial rupture, resulting in choanal atresia
• approximately 50% struggle to breathe

craniofacial
• reduced palatine process of the palatal bone (68%) at E18.5
• 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
• 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
• aberrant pattern of rugae, combined with an area of translucency in the posterior portion
• 2 of 30 mice show an overt cleft palate (2/30)
• anterior caudal attachment of the tongue to the mandible at E15.5
• persistent oro-nasal membranes or, in some mice a partial rupture, resulting in choanal atresia

skeleton
• 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
• reduced palatine process of the palatal bone (68%) at E18.5
• 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
• 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
• reduced mineralization of the palatine bone at E18.5
• complete lack of mineralization of the bones of the head at E15.5
• severely reduced bone ossification in the posterior hard palate at E15.5

digestive/alimentary system
• reduced palatine process of the palatal bone (68%) at E18.5
• 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
• aberrant pattern of rugae, combined with an area of translucency in the posterior portion
• 2 of 30 mice show an overt cleft palate (2/30)
• anterior caudal attachment of the tongue to the mandible at E15.5

cellular
• 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
• reduced palatine process of the palatal bone (68%) at E18.5
• 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
• aberrant pattern of rugae, combined with an area of translucency in the posterior portion
• 2 of 30 mice show an overt cleft palate (2/30)
• anterior caudal attachment of the tongue to the mandible at E15.5
• 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


Contributing Projects:
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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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory