Phenotypes Associated with This Genotype

Genotype
MGI:5790180

• Allelic Composition: Fgfr2^tm2Cxd/Fgfr2⁺; Tg(EIIa-cre)C5379Lmgd/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * FVB/N

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

craniofacial

wide intermaxillary suture ( J:228708 )

• widening of the intermaxillary suture

abnormal presphenoid bone morphology ( J:228708 )

• increase in cartilaginous appearance of the presphenoid bone indicating reduced ossification of this bone

abnormal zygomatic arch morphology ( J:228708 )

• fusion of the zygomatic arch at P0

short nasal bone ( J:228708 )

• foreshortening of the nasal bone

abnormal palatine bone morphology ( J:228708 )

• severe palatal bone dysplasia at P0 associated with a widening of the intermaxillary suture

• dysplasia of the palatine bone involves anterior curvature of the vertical processes and an overall porous appearance

domed cranium ( J:228708 )

midface hypoplasia ( J:228708 )

growth/size/body

short nasal bone ( J:228708 )

• foreshortening of the nasal bone

midface hypoplasia ( J:228708 )

skeleton

wide intermaxillary suture ( J:228708 )

• widening of the intermaxillary suture

abnormal presphenoid bone morphology ( J:228708 )

• increase in cartilaginous appearance of the presphenoid bone indicating reduced ossification of this bone

abnormal zygomatic arch morphology ( J:228708 )

• fusion of the zygomatic arch at P0

short nasal bone ( J:228708 )

• foreshortening of the nasal bone

abnormal palatine bone morphology ( J:228708 )

• severe palatal bone dysplasia at P0 associated with a widening of the intermaxillary suture

• dysplasia of the palatine bone involves anterior curvature of the vertical processes and an overall porous appearance

domed cranium ( J:228708 )

abnormal trabecular bone morphology ( J:228708 )

• poor cancellous bone formation of the cranial base

premature coronal suture closure ( J:228708 )

• fusion of the coronal suture at P0

premature facial suture closure ( J:228708 )

• facial suture synostosis at P0, with fusion of the premaxillary-maxillary, nasal-frontal, and maxillary-palatine sutures

premature maxillary-premaxillary suture closure ( J:228708 )

• fusion of the premaxillary-maxillary suture at P0

premature palatomaxillary suture closure ( J:228708 )

• fusion of the maxillary-palatine suture at P0

premature frontonasal suture closure ( J:228708 )

• fusion of the nasal-frontal suture at P0

respiratory system

short nasal bone ( J:228708 )

• foreshortening of the nasal bone

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acrocephalosyndactylia		DOID:12960	OMIM:101200	J:228708