Phenotypes Associated with This Genotype

Genotype
MGI:3053579

• Allelic Composition: Fgfr2^tm4Lni/Fgfr2⁺
• Genetic Background: Not Specified

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

Skull and coronal suture phenotypes of Fgfr2^tm4Lni/ Fgfr2⁺ (Fgfr2c^C342Y/+) mice.

craniofacial

abnormal frontal bone morphology ( J:235329 )

• 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

abnormal sphenoid bone morphology ( J:92433 )

• 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

decreased molar number ( J:92433 )

• one molar is missing at 4 weeks

malocclusion ( J:92433 )

• a few heterozygotes display a lateral deviation of the nasal area resulting in malocclusion and feeding impairment

short maxilla ( J:92433 )

• at 4 weeks the maxilla is shorter than normal

domed cranium ( J:92433 )

• rounding is the result of shortening on the rostrocaudal axis

short face ( J:92433 )

• heterozygotes display a shortened face

skeleton

abnormal frontal bone morphology ( J:235329 )

• 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

abnormal sphenoid bone morphology ( J:92433 )

• 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

decreased molar number ( J:92433 )

• one molar is missing at 4 weeks

malocclusion ( J:92433 )

• a few heterozygotes display a lateral deviation of the nasal area resulting in malocclusion and feeding impairment

short maxilla ( J:92433 )

• at 4 weeks the maxilla is shorter than normal

domed cranium ( J:92433 )

• rounding is the result of shortening on the rostrocaudal axis

increased osteoblast cell number ( J:92433 )

• significantly more osteoblasts are seen in the long bones

premature cranial suture closure ( J:92433 )

• at 4 weeks the coronal sutures are fused, the lamboid sutures partially fused, and the saggital sutures only partially separable

premature coronal suture closure ( J:92433 , J:235329 )

• 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

exophthalmos ( J:92433 )

• protruding eyes are seen

ocular hypertelorism ( J:92433 )

• widely spaced eyes are seen

growth/size/body

decreased molar number ( J:92433 )

• one molar is missing at 4 weeks

malocclusion ( J:92433 )

• a few heterozygotes display a lateral deviation of the nasal area resulting in malocclusion and feeding impairment

short face ( J:92433 )

• 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