Mouse Genome Informatics
hm1
    Fgfr2tm1Schl/Fgfr2tm1Schl
involves: 129S1/Sv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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


Mouse Genome Informatics
ht2
    Fgfr2tm1Schl/Fgfr2+
involves: 129S1/Sv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
Crouzon Syndrome 123500 J:118299