Analysis Tools|
Allele Symbol Allele Name Allele ID |
Tfap2atm2.1Will targeted mutation 2.1, Trevor Williams MGI:5647993 |
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| Summary |
3 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• changes in both the relative size and shape of the maxilla
• maxilla seems to grow away from the midface; at E11.5, the maxilla is located in a more rostrolateral position
• decrease in proliferation in the mesenchyme of the maxilla
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• the premaxilla is discontinuous in embryos, resulting in the premaxilla to protrude from the anterior of the face as a bulbous structure
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• changes in shape of both the nasal and maxillary prominences that places them in more lateral positions
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• decrease in proliferation in the mesenchyme of the medial and lateral nasal prominences
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• low penetrance (2 of 10) of defects in the maxillary palatal processes
• the maxillary prominence is projected laterally
• reduced rate of proliferation in the mesenchyme of the maxillary prominences
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• decrease in proliferation in the mesenchyme of the medial and lateral nasal prominences
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• changes in both the relative size and shape of the nasal pit, with the lateral edge of the nasal pit flaring outward instead of growing in toward the center
• apoptotic cells are not seen where the medial and lateral edges of nasal pit ectoderm are beginning to fuse as in controls
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• facial shape differences are apparent from E10.25 and morphologies become highly divergent by E11.5
• mice with exencephaly have a distinct facial morphology from mice with facial clefting but no exencephaly
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• the secondary-palate defects are mainly associated with defects in the premaxilla and the premaxillary palatal processes
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• fully penetrant at E18.5
• both primary and secondary palates are affected, although defects in the more posterior regions of the secondary palate are not generally not seen
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• E18.5 mice exhibit fully penetrant bilateral facial clefting (cleft lip/palate)
• failure of facial fusion is due to changes in the growth and morphogenesis of the facial prominences
• the lateral edge of the nasal pit flares outward instead of growing in toward the center and the maxillary prominence is projected laterally, preventing apposition and fusion of the facial prominences
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• about 45% of mice exhibit abnormal neural tube closure at E9.5
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• facial shape differences are apparent from E10.25 and morphologies become highly divergent by E11.5
• mice with exencephaly have a distinct facial morphology from mice with facial clefting but no exencephaly
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• the secondary-palate defects are mainly associated with defects in the premaxilla and the premaxillary palatal processes
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• fully penetrant at E18.5
• both primary and secondary palates are affected, although defects in the more posterior regions of the secondary palate are not generally not seen
|
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• E18.5 mice exhibit fully penetrant bilateral facial clefting (cleft lip/palate)
• failure of facial fusion is due to changes in the growth and morphogenesis of the facial prominences
• the lateral edge of the nasal pit flares outward instead of growing in toward the center and the maxillary prominence is projected laterally, preventing apposition and fusion of the facial prominences
|
|
• the secondary-palate defects are mainly associated with defects in the premaxilla and the premaxillary palatal processes
|
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• fully penetrant at E18.5
• both primary and secondary palates are affected, although defects in the more posterior regions of the secondary palate are not generally not seen
|
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• about 45% of mice exhibit abnormal neural tube closure at E9.5
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• about 30% of E18.5 mice exhibit mid/hindbrain exencephaly
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• changes in both the relative size and shape of the nasal pit, with the lateral edge of the nasal pit flaring outward instead of growing in toward the center
• apoptotic cells are not seen where the medial and lateral edges of nasal pit ectoderm are beginning to fuse as in controls
|
|
• changes in both the relative size and shape of the maxilla
• maxilla seems to grow away from the midface; at E11.5, the maxilla is located in a more rostrolateral position
• decrease in proliferation in the mesenchyme of the maxilla
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• the premaxilla is discontinuous in embryos, resulting in the premaxilla to protrude from the anterior of the face as a bulbous structure
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| orofacial cleft | DOID:0050567 |
OMIM:PS119530 |
J:217408 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• the nasal pits are somewhat larger and are angled slightly downwards toward the maxilla
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• slight widening of the midface
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• 8 of 18 mice exhibit a unilateral premaxillary fusion defect resulting in a unilateral cleft primary palate
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• 8 of 18 mice exhibit a unilateral premaxillary fusion defect resulting in a unilateral cleft primary palate
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• slight widening of the midface
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• 8 of 18 mice exhibit a unilateral premaxillary fusion defect resulting in a unilateral cleft primary palate
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• the nasal pits are somewhat larger and are angled slightly downwards toward the maxilla
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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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last database update 11/12/2024 MGI 6.24 |
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