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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Fgfr2tm2Ewj
targeted mutation 2, Ethylin Wang Jabs
MGI:4430185
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Fgfr2tm2Ewj/Fgfr2+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:4430189
cn2
Fgfr2tm2Ewj/Fgfr2+
Tg(EIIa-cre)C5379Lmgd/0
B6.Cg-Fgfr2tm2Ewj Tg(EIIa-cre)C5379Lmgd MGI:4440856


Genotype
MGI:4430189
ht1
Allelic
Composition
Fgfr2tm2Ewj/Fgfr2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr2tm2Ewj mutation (0 available); any Fgfr2 mutation (87 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 1 of 14 mice exhibit severe brain asymmetry unlike in wild-type mice
• 1 of 14 mice exhibit mild brain asymmetry unlike in wild-type mice
• rostrocaudal brain length in many mice is decreased compared to in wild-type mice
• in 2 of 14 mice
• in 1 of 14 mice
• cerebral height in many mice is increased compared to in wild-type mice
• mice exhibit cerebral asymmetry to varying degrees compared with wild-type mice
• arched in 3 of 14 mice

skeleton
• at P0, mice exhibit variation in the pattern and degree of coronal suture closure compared with wild-type mice
• mice exhibit unilateral or bilateral coronal suture synostosis unlike wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
acrocephalosyndactylia DOID:12960 OMIM:101200
J:156940




Genotype
MGI:4440856
cn2
Allelic
Composition
Fgfr2tm2Ewj/Fgfr2+
Tg(EIIa-cre)C5379Lmgd/0
Genetic
Background
B6.Cg-Fgfr2tm2Ewj Tg(EIIa-cre)C5379Lmgd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr2tm2Ewj mutation (0 available); any Fgfr2 mutation (87 available)
Tg(EIIa-cre)C5379Lmgd mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Skeletal abnormalities in Fgfr2tm2Ewj/Fgfr2+ Tg(EIIa-cre)C5379Lmgd/0 mice

mortality/aging
• almost half of all mice die within 24 to 36 hours of birth
• most mice die within 2 weeks of birth with very few surviving to 3 weeks

skeleton
• mice exhibit a patent inter-premaxillary suture with fusion of the premaxilla-maxillary sutures unlike wild-type mice
• mice exhibit premature closure of the suture between the zygomatic process of the maxilla and the zygomatic bones and the premaxillary-maxillary sutures unlike wild-type mice
• with proximate osteogenic fronts and cellular disorganization at P0
• at E16.5 to P0, mice exhibit ectopic cartilage at the sagittal suture unlike wild-type mice
• the anterior and overall length of the cranial base is decreased compared to in wild-type mice
• skull height is increased compared to in wild-type mice
• the zygomatic process of the maxilla and malar bone are fused unlike in wild-type mice
• the nasal region is shorter than in wild-type mice and cre-recombined Fgfr2tm1Ewj heterozygotes
• the zygomatic process of the maxilla and malar bone are fused unlike in wild-type mice
• at P10
• at P10
• at P10
• at P10
• at P0, all mice exhibit bony fusions of the sternum unlike wild-type mice
• coronal sutures exhibit increased osteogenic differentiation and accelerated bone growth compared to in wild-type mice
• however, apoptosis rates at coronal sutures is normal
• at E17.5 to P0, the physis hypertrophic zone is disorganized compared to in wild-type mice
• as determined by marker expression at E19, osteoblast differentiation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice
• at E19, osteoblast proliferation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice
• mice exhibit unilateral or bilateral coronal synostosis unlike wild-type mice
• at P0, mice exhibit coronal suture presynostosis unlike wild-type mice

craniofacial
• mice exhibit a patent inter-premaxillary suture with fusion of the premaxilla-maxillary sutures unlike wild-type mice
• mice exhibit premature closure of the suture between the zygomatic process of the maxilla and the zygomatic bones and the premaxillary-maxillary sutures unlike wild-type mice
• with proximate osteogenic fronts and cellular disorganization at P0
• at E16.5 to P0, mice exhibit ectopic cartilage at the sagittal suture unlike wild-type mice
• the anterior and overall length of the cranial base is decreased compared to in wild-type mice
• skull height is increased compared to in wild-type mice
• the zygomatic process of the maxilla and malar bone are fused unlike in wild-type mice
• the nasal region is shorter than in wild-type mice and cre-recombined Fgfr2tm1Ewj heterozygotes
• the zygomatic process of the maxilla and malar bone are fused unlike in wild-type mice
• from E15.5 to P0, all mice exhibit bilaterally incomplete fusion at the junction of the primary and secondary palatal shelves unlike in wild-type mice
• the midline suture between the horizontal plates of the palatine bones is patent unlike in wild-type mice
• in 9 of 10 mice the suture between the horizontal plate of the palatine bone and the palatal shelf of the maxilla is patent compared with 3 of 7 wild-type mice

growth/size/body
• the nasal region is shorter than in wild-type mice and cre-recombined Fgfr2tm1Ewj heterozygotes
• from E15.5 to P0, all mice exhibit bilaterally incomplete fusion at the junction of the primary and secondary palatal shelves unlike in wild-type mice
• the midline suture between the horizontal plates of the palatine bones is patent unlike in wild-type mice
• in 9 of 10 mice the suture between the horizontal plate of the palatine bone and the palatal shelf of the maxilla is patent compared with 3 of 7 wild-type mice
• beginning at P5

digestive/alimentary system
• from E15.5 to P0, all mice exhibit bilaterally incomplete fusion at the junction of the primary and secondary palatal shelves unlike in wild-type mice
• the midline suture between the horizontal plates of the palatine bones is patent unlike in wild-type mice
• in 9 of 10 mice the suture between the horizontal plate of the palatine bone and the palatal shelf of the maxilla is patent compared with 3 of 7 wild-type mice

limbs/digits/tail
• at P10
• at P10
• at P10
• at P10

cellular
• as determined by marker expression at E19, osteoblast differentiation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice
• at E19, osteoblast proliferation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice

vision/eye
• intercanthal distance is reduced compared to in wild-type mice

respiratory system
• the nasal region is shorter than in wild-type mice and cre-recombined Fgfr2tm1Ewj heterozygotes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
acrocephalosyndactylia DOID:12960 OMIM:101200
J:158773





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