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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Fgfr2tm4Lni
targeted mutation 4, Peter Lonai
MGI:3053095
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Fgfr2tm4Lni/Fgfr2tm4Lni Not Specified MGI:3053578
ht2
Fgfr2tm4Lni/Fgfr2+ Not Specified MGI:3053579


Genotype
MGI:3053578
hm1
Allelic
Composition
Fgfr2tm4Lni/Fgfr2tm4Lni
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr2tm4Lni mutation (3 available); any Fgfr2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

+/+ wildtype, Fgfr2tm4Lni/Fgfr2tm4Lni and Fgfr2tm4Lni/+ phenotypic characterizations

cellular
• excessive bone formation is seen in the axial skeleton of newborn homozygous mutants

mortality/aging
• homozygotes die shortly after birth with signs of respiratory failure

craniofacial
• the skull base is shortened, thickened, and curved
• the nasal bones are thickened
• the palatine bones are thickened
• homozygotes display an extremely shortened face and skull base
• the secondary bony palate fails to close with overt cleft palate in 3 out of 4 homozygotes
• the secondary bony palate fails to close

respiratory system
• the lungs are underdeveloped
• the tracheal cartilage rings are fused into a thin cartilaginous sheet

skeleton
• excessive bone formation is seen in the axial skeleton of newborn homozygous mutants
• the tracheal cartilage rings are fused into a thin cartilaginous sheet
• the knee joint is fused by a posterior bony bridge in most newborn mutants
• the axial skeleton is shorter and thicker than wild-type littermates
• the skull base is shortened, thickened, and curved
• the nasal bones are thickened
• the palatine bones are thickened
• synostosis of the sternebrae (connection of the elements of the sternum by osseous tissue) is seen
• the lower cervical and upper thoracic and the sacral and caudal vertebrae are fused
• significantly more osteoblasts are seen in the long bones
• many ossification centers are closer togther than in wild-type mice

vision/eye

digestive/alimentary system
• the secondary bony palate fails to close with overt cleft palate in 3 out of 4 homozygotes
• the secondary bony palate fails to close

growth/size/body
• homozygotes display an extremely shortened face and skull base
• the secondary bony palate fails to close with overt cleft palate in 3 out of 4 homozygotes
• the secondary bony palate fails to close




Genotype
MGI:3053579
ht2
Allelic
Composition
Fgfr2tm4Lni/Fgfr2+
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr2tm4Lni mutation (3 available); any Fgfr2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

+/+ wildtype and Fgfr2tm4Lni/+ skull phenotypes and histological sections.

craniofacial
• elastic modulus of the frontal bone is lower than in wild-type mice at P10 and P20 and is lower than in parietal bone compared to wild-type mice which show a higher elastic modulus of the frontal bone than the parietal bone
• frontal bone is more porous, showing less trabecular bone and larger lacunae at P10
• however, no difference in the elastic modulus of parietal bone is seen
• skull base shortening is mainly in the sphenoid region
• at E14.5 chondrocyte proliferation in the basisphenoid-basioccipital synchondrosis is decreased, however by E16.5 proliferation had returned to normal
• one molar is missing at 4 weeks
• a few heterozygotes display a lateral deviation of the nasal area resulting in malocclusion and feeding impairment
• at 4 weeks the maxilla is shorter than normal
• rounding is the result of shortening on the rostrocaudal axis
• heterozygotes display a shortened face

skeleton
• elastic modulus of the frontal bone is lower than in wild-type mice at P10 and P20 and is lower than in parietal bone compared to wild-type mice which show a higher elastic modulus of the frontal bone than the parietal bone
• frontal bone is more porous, showing less trabecular bone and larger lacunae at P10
• however, no difference in the elastic modulus of parietal bone is seen
• skull base shortening is mainly in the sphenoid region
• at E14.5 chondrocyte proliferation in the basisphenoid-basioccipital synchondrosis is decreased, however by E16.5 proliferation had returned to normal
• one molar is missing at 4 weeks
• a few heterozygotes display a lateral deviation of the nasal area resulting in malocclusion and feeding impairment
• at 4 weeks the maxilla is shorter than normal
• rounding is the result of shortening on the rostrocaudal axis
• significantly more osteoblasts are seen in the long bones
• at 4 weeks the coronal sutures are fused, the lamboid sutures partially fused, and the saggital sutures only partially separable
• at E16.5 increased overlap of the frontal and parietal bones (coronal suture) is seen (J:92433)
• at E14.5 increased proliferation of osteoprogenitors is seen in the frontal and parietal bone fronts of the coronal suture, however by E16.5 proliferation had returned to normal (J:92433)
• early fusion of the coronal suture joining the parietal and frontal bone (J:235329)

vision/eye
• protruding eyes are seen
• widely spaced eyes are seen

growth/size/body
• one molar is missing at 4 weeks
• a few heterozygotes display a lateral deviation of the nasal area resulting in malocclusion and feeding impairment
• heterozygotes display a shortened face

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Crouzon syndrome DOID:2339 OMIM:123500
J:92433 , J:235329





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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
12/03/2019
MGI 6.14
The Jackson Laboratory