Phenotypes Associated with This Genotype

Genotype
MGI:3699817

• Allelic Composition: Fgfr2^tm1Schl/Fgfr2⁺
• Genetic Background: involves: 129S1/Sv

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Crouzon-Like Syndrome characterization, skull scan and histological sections of Fgfr2^tm1Schl/Fgfr2⁺ and Fgfr2^tm2Schl/Fgfr2⁺ mice

craniofacial

abnormal cranium morphology ( J:118299 )

• mice have rounded cranium

short face ( J:118299 )

• facial region is significantly shortened

growth/size/body

short face ( J:118299 )

• facial region is significantly shortened

skeleton

abnormal cranium morphology ( J:118299 )

• mice have rounded cranium

premature cranial suture closure ( J:118299 )

• mice display craniosynostosis

premature coronal suture closure ( J:118299 )

• at 6 weeks of age, coronal sutures are fused completely on both sides of the skull, unlike in wild-type controls

• 1-week old mice have abundant mineralized bone trabeculae in the coronal suture mesenchyme

vision/eye

exophthalmos ( J:118299 )

• mice have protruding eyes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Crouzon syndrome		DOID:2339	OMIM:123500	J:118299