Phenotypes associated with this allele

• Allele Symbol: Fgfr2^tm1Schl
• Allele Name: targeted mutation 1, Joseph Schlessinger
• Allele ID: MGI:3699313
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fgfr2^tm1Schl/Fgfr2^tm1Schl	involves: 129S1/Sv	MGI:3699818
ht2	Fgfr2^tm1Schl/Fgfr2^+	involves: 129S1/Sv	MGI:3699817

Genotype
MGI:3699818

hm1

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

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

Cleft palate, tracheal defects and joint analysis in Fgfr2^tm1Schl/Fgfr2^tm1Schl and Fgfr2^tm2Schl/Fgfr2^tm2Schl mice

mortality/aging

neonatal lethality, complete penetrance ( J:118299 )

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

respiratory system

abnormal tracheal cartilage morphology ( J:118299 )

• cartilaginous rings are not separated by fibrous tissue, resulting in formation of tracheal cartilaginous sleeve (TCS - continuous tube-shaped cartilaginous core)

abnormal respiration ( J:118299 )

• trachea becomes rigid resulting in impaired breathing

craniofacial

palatal shelves fail to meet at midline ( J:118299 )

cleft palate ( J:118299 )

• mice have cleft palate

skeleton

abnormal tracheal cartilage morphology ( J:118299 )

• cartilaginous rings are not separated by fibrous tissue, resulting in formation of tracheal cartilaginous sleeve (TCS - continuous tube-shaped cartilaginous core)

fused joints ( J:118299 )

• agenesis of joint spaces between distal femur and proximal tibia and distal humerus and proximal radius causing fused knees and elbows

digestive/alimentary system

palatal shelves fail to meet at midline ( J:118299 )

cleft palate ( J:118299 )

• mice have cleft palate

growth/size/body

palatal shelves fail to meet at midline ( J:118299 )

cleft palate ( J:118299 )

• mice have cleft palate

Genotype
MGI:3699817

ht2

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

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