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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Fgfr2tm2Cxd
targeted mutation 2, Chu-Xia Deng
MGI:3604072
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Fgfr2tm2Cxd/Fgfr2+
Tg(EIIa-cre)C5379Lmgd/0
involves: 129S6/SvEvTac * C57BL/6J * FVB/N MGI:5790180
cn2
Fgfr2tm2Cxd/Fgfr2+
Tg(EIIa-cre)C5379Lmgd/0
involves: 129S6/SvEvTac * FVB/N MGI:3604078


Genotype
MGI:5790180
cn1
Allelic
Composition
Fgfr2tm2Cxd/Fgfr2+
Tg(EIIa-cre)C5379Lmgd/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr2tm2Cxd mutation (0 available); any Fgfr2 mutation (41 available)
Tg(EIIa-cre)C5379Lmgd mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• widening of the intermaxillary suture
• facial suture synostosis at P0, with fusion of the premaxillary-maxillary, nasal-frontal, and maxillary-palatine sutures
• fusion of the coronal suture at P0
• fusion of the nasal-frontal suture at P0
• fusion of the premaxillary-maxillary suture at P0
• increase in cartilaginous appearance of the presphenoid bone indicating reduced ossification of this bone
• fusion of the zygomatic arch at P0
• foreshortening of the nasal bone
• severe palatal bone dysplasia at P0 associated with a widening of the intermaxillary suture
• dysplasia of the palatine bone involves anterior curvature of the vertical processes and an overall porous appearance

growth/size/body

skeleton
• widening of the intermaxillary suture
• facial suture synostosis at P0, with fusion of the premaxillary-maxillary, nasal-frontal, and maxillary-palatine sutures
• fusion of the coronal suture at P0
• fusion of the nasal-frontal suture at P0
• fusion of the premaxillary-maxillary suture at P0
• increase in cartilaginous appearance of the presphenoid bone indicating reduced ossification of this bone
• fusion of the zygomatic arch at P0
• foreshortening of the nasal bone
• severe palatal bone dysplasia at P0 associated with a widening of the intermaxillary suture
• dysplasia of the palatine bone involves anterior curvature of the vertical processes and an overall porous appearance
• poor cancellous bone formation of the cranial base
• facial suture synostosis at P0

Mouse Models of Human Disease
OMIM ID Ref(s)
Apert Syndrome 101200 J:228708




Genotype
MGI:3604078
cn2
Allelic
Composition
Fgfr2tm2Cxd/Fgfr2+
Tg(EIIa-cre)C5379Lmgd/0
Genetic
Background
involves: 129S6/SvEvTac * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr2tm2Cxd mutation (0 available); any Fgfr2 mutation (41 available)
Tg(EIIa-cre)C5379Lmgd mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants with severe cranial abnormalities die within 20 days of birth, less severely affected mutants survive to adulthood

growth/size/body
• midface hypoplasia
• severely affected mutants are very small compared to wild-type mice, less severely affected mutants are 70-80% of the size of wild-type littermates

skeleton
• some adults have asymmetrical skulls; however no obvious hand/foot abnormalities are seen
• at P1 and P8 increased apoptosis is seen with the highest levels seen in the parietal and frontal bones; however no significant difference in osteoblast proliferation (at E16.5, E18.5, P1, P5, and P8) or differentiation (at E18.5, P1, and P18) is seen in the sutures
• premature closure of the coronal suture is first seen around E18.5 with more significant overlap between the osteogenic fronts developing over time and fewer mesenchymal cells are found in the coronal suture at birth
• development of the sagittal suture is slightly delayed
• significant shortening of the anterior-posterior axis
• calvarial bone formation is decreased
• the frontal bone is thinner and at P1 and P8 increased apoptosis is seen
• the parietal bone is thinner and at P1 and P8 increased apoptosis is seen
• the presphenoid bone is significantly shorter
• after P10 some mutants have slightly shorter columns of proliferating chondrocytes
• craniosynostosis is most pronounced in the coronal suture

vision/eye

reproductive system
• all surviving females are sterile
• only 1 male generated 2 litters when mated with a wild-type female

craniofacial
• cranial abnormalities vary in severity and the severely affected mutants die postnatally
• some adults have asymmetrical skulls; however no obvious hand/foot abnormalities are seen
• at P1 and P8 increased apoptosis is seen with the highest levels seen in the parietal and frontal bones; however no significant difference in osteoblast proliferation (at E16.5, E18.5, P1, P5, and P8) or differentiation (at E18.5, P1, and P18) is seen in the sutures
• premature closure of the coronal suture is first seen around E18.5 with more significant overlap between the osteogenic fronts developing over time and fewer mesenchymal cells are found in the coronal suture at birth
• development of the sagittal suture is slightly delayed
• significant shortening of the anterior-posterior axis
• calvarial bone formation is decreased
• the frontal bone is thinner and at P1 and P8 increased apoptosis is seen
• the parietal bone is thinner and at P1 and P8 increased apoptosis is seen
• the presphenoid bone is significantly shorter
• midface hypoplasia

embryo
• severely affected mutants are very small compared to wild-type mice, less severely affected mutants are 70-80% of the size of wild-type littermates

Mouse Models of Human Disease
OMIM ID Ref(s)
Apert Syndrome 101200 J:101385





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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory