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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tfap2atm2.1Will
targeted mutation 2.1, Trevor Williams
MGI:5647993
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tfap2atm2.1Will/Tfap2atm2.1Will involves: 129S1/Sv * Black Swiss MGI:5647999
ht2
Tfap2atm1Will/Tfap2atm2.1Will involves: 129S1/Sv * Black Swiss MGI:5647995
cx3
Fgf8tm1.4Mrt/Fgf8+
Tfap2atm1Will/Tfap2atm2.1Will
involves: 129P2/OlaHsd * 129S1/Sv * Black Swiss MGI:5648001


Genotype
MGI:5647999
hm1
Allelic
Composition
Tfap2atm2.1Will/Tfap2atm2.1Will
Genetic
Background
involves: 129S1/Sv * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tfap2atm2.1Will mutation (0 available); any Tfap2a mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mice are normal and viable




Genotype
MGI:5647995
ht2
Allelic
Composition
Tfap2atm1Will/Tfap2atm2.1Will
Genetic
Background
involves: 129S1/Sv * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tfap2atm1Will mutation (0 available); any Tfap2a mutation (15 available)
Tfap2atm2.1Will mutation (0 available); any Tfap2a mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

craniofacial
• 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
• the premaxilla is discontinuous in embryos, resulting in the premaxilla to protrude from the anterior of the face as a bulbous structure
• changes in shape of both the nasal and maxillary prominences that places them in more lateral positions
• decrease in proliferation in the mesenchyme of the medial and lateral nasal prominences
• 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
• decrease in proliferation in the mesenchyme of the medial and lateral nasal prominences
• 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
• 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
• the secondary-palate defects are mainly associated with defects in the premaxilla and the premaxillary palatal processes
• 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
• 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

embryo
• about 45% of mice exhibit abnormal neural tube closure at E9.5

growth/size/body
• 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
• the secondary-palate defects are mainly associated with defects in the premaxilla and the premaxillary palatal processes
• 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
• 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

limbs/digits/tail

digestive/alimentary system
• the secondary-palate defects are mainly associated with defects in the premaxilla and the premaxillary palatal processes
• 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

nervous system
• about 45% of mice exhibit abnormal neural tube closure at E9.5
• about 30% of E18.5 mice exhibit mid/hindbrain exencephaly

respiratory system
• 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

skeleton
• 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
• the premaxilla is discontinuous in embryos, resulting in the premaxilla to protrude from the anterior of the face as a bulbous structure

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
orofacial cleft DOID:0050567 OMIM:608864
J:217408




Genotype
MGI:5648001
cx3
Allelic
Composition
Fgf8tm1.4Mrt/Fgf8+
Tfap2atm1Will/Tfap2atm2.1Will
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1.4Mrt mutation (0 available); any Fgf8 mutation (12 available)
Tfap2atm1Will mutation (0 available); any Tfap2a mutation (15 available)
Tfap2atm2.1Will mutation (0 available); any Tfap2a mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• the nasal pits are somewhat larger and are angled slightly downwards toward the maxilla
• slight widening of the midface
• 8 of 18 mice exhibit a unilateral premaxillary fusion defect resulting in a unilateral cleft primary palate

digestive/alimentary system
• 8 of 18 mice exhibit a unilateral premaxillary fusion defect resulting in a unilateral cleft primary palate

growth/size/body
• slight widening of the midface
• 8 of 18 mice exhibit a unilateral premaxillary fusion defect resulting in a unilateral cleft primary palate

respiratory system
• the nasal pits are somewhat larger and are angled slightly downwards toward the maxilla





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
10/08/2019
MGI 6.14
The Jackson Laboratory