Phenotypes Associated with This Genotype

Genotype
MGI:4461807

• Allelic Composition: Fgfr2^m1Sgg/Fgfr2⁺
• Genetic Background: involves: C3H/HeJ * C57BL/6J

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

craniofacial

abnormal craniofacial morphology ( J:160674 )

• at 3 weeks of age, mice exhibit short snout, retruded mid-face, and variable septal deviation unlike wild-type mice

wide cranial sutures ( J:160674 )

• sutural spaces are wider than in wild-type mice

abnormal basisphenoid bone morphology ( J:160674 )

decreased cranium height ( J:160674 )

• mice exhibit decreased antero-posterior skull length compared with wild-type mice

absent presphenoid bone ( J:160674 )

long incisors ( J:160674 )

malocclusion ( J:160674 )

domed cranium ( J:160674 )

abnormal palatal shelf fusion at midline ( J:160674 )

• mice exhibit a delay in horizontal secondary palate formation in the posterior edge of the maxillary bone and hard tissue clefts on the secondary palate compared with wild-type mice

cleft secondary palate ( J:160674 )

abnormal nasal septum cartilage morphology ( J:160674 )

• nasal septum shows a lack of ordered columnar organization of chondrocytes compared to in wild-type mice

short snout ( J:160674 )

growth/size/body

growth/size/body region phenotype ( J:160674 )

N • 3 weeks postnatal, mice exhibit normal body size and weight

long incisors ( J:160674 )

malocclusion ( J:160674 )

abnormal palatal shelf fusion at midline ( J:160674 )

• mice exhibit a delay in horizontal secondary palate formation in the posterior edge of the maxillary bone and hard tissue clefts on the secondary palate compared with wild-type mice

cleft secondary palate ( J:160674 )

abnormal nasal septum cartilage morphology ( J:160674 )

• nasal septum shows a lack of ordered columnar organization of chondrocytes compared to in wild-type mice

short snout ( J:160674 )

decreased embryo size ( J:160674 )

decreased birth body size ( J:160674 )

• slightly

digestive/alimentary system

abnormal palatal shelf fusion at midline ( J:160674 )

• mice exhibit a delay in horizontal secondary palate formation in the posterior edge of the maxillary bone and hard tissue clefts on the secondary palate compared with wild-type mice

cleft secondary palate ( J:160674 )

embryo

decreased embryo size ( J:160674 )

hearing/vestibular/ear

abnormal ear development ( J:160674 )

• the ear capsule is reduced in size compared to in wild-type mice

respiratory system

abnormal nasal septum cartilage morphology ( J:160674 )

• nasal septum shows a lack of ordered columnar organization of chondrocytes compared to in wild-type mice

skeleton

wide cranial sutures ( J:160674 )

• sutural spaces are wider than in wild-type mice

abnormal basisphenoid bone morphology ( J:160674 )

decreased cranium height ( J:160674 )

• mice exhibit decreased antero-posterior skull length compared with wild-type mice

absent presphenoid bone ( J:160674 )

long incisors ( J:160674 )

malocclusion ( J:160674 )

domed cranium ( J:160674 )

abnormal nasal septum cartilage morphology ( J:160674 )

• nasal septum shows a lack of ordered columnar organization of chondrocytes compared to in wild-type mice

abnormal sternum morphology ( J:160674 )

decreased osteoblast cell number ( J:160674 )

• fewer Runx2+ cells are found surrounding the edge of the coronal sutures compared to in wild-type mice

abnormal chondrocyte morphology ( J:160674 )

• pericellular spaces in the nasal septum chondrocytes are bigger than in wild-type mice

abnormal endochondral bone ossification ( J:160674 )

premature coronal suture closure ( J:160674 )

• premature fusion in some mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Crouzon syndrome		DOID:2339	OMIM:123500	J:160674