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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Fgfr2tm1Schl
targeted mutation 1, Joseph Schlessinger
MGI:3699313
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Fgfr2tm1Schl/Fgfr2tm1Schl involves: 129S1/Sv MGI:3699818
ht2
Fgfr2tm1Schl/Fgfr2+ involves: 129S1/Sv MGI:3699817


Genotype
MGI:3699818
hm1
Allelic
Composition
Fgfr2tm1Schl/Fgfr2tm1Schl
Genetic
Background
involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr2tm1Schl mutation (0 available); any Fgfr2 mutation (41 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Cleft palate, tracheal defects and joint analysis in Fgfr2tm1Schl/Fgfr2tm1Schl and Fgfr2tm2Schl/Fgfr2tm2Schl mice

mortality/aging
• mice die within one day of birth, probably from feeding problems due to cleft palate

respiratory system
• cartilaginous rings are not separated by fibrous tissue, resulting in formation of tracheal cartilaginous sleeve (TCS - continuous tube-shaped cartilaginous core)
• trachea becomes rigid resulting in impaired breathing

craniofacial
• mice have cleft palate

skeleton
• cartilaginous rings are not separated by fibrous tissue, resulting in formation of tracheal cartilaginous sleeve (TCS - continuous tube-shaped cartilaginous core)
• agenesis of joint spaces between distal femur and proximal tibia and distal humerus and proximal radius causing fused knees and elbows

digestive/alimentary system
• mice have cleft palate

growth/size/body
• mice have cleft palate




Genotype
MGI:3699817
ht2
Allelic
Composition
Fgfr2tm1Schl/Fgfr2+
Genetic
Background
involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr2tm1Schl mutation (0 available); any Fgfr2 mutation (41 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Crouzon-Like Syndrome characterization, skull scan and histological sections of Fgfr2tm1Schl/Fgfr2+ and Fgfr2tm2Schl/Fgfr2+ mice

craniofacial
• facial region is significantly shortened
• mice have rounded cranium
• coronal sutures are fused completely on both sides of the skull
• 1-week old mice have abundant mineralized bone trabeculae in the coronal suture mesenchyme

skeleton
• mice have rounded cranium
• coronal sutures are fused completely on both sides of the skull
• 1-week old mice have abundant mineralized bone trabeculae in the coronal suture mesenchyme
• mice display craniosynostosis

vision/eye
• mice have protruding eyes

Mouse Models of Human Disease
OMIM ID Ref(s)
Crouzon Syndrome 123500 J:118299





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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory