Phenotypes Associated with This Genotype

Genotype
MGI:5790247

• Allelic Composition: Fgfr1^tm2.1Cxd/Fgfr1⁺
• Genetic Background: D2.129S6(Cg)-Fgfr1^tm2.1Cxd

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

craniofacial

abnormal basisphenoid bone morphology ( J:228708 )

• premature fusion of the palatine-basisphenoid bones

abnormal viscerocranium morphology ( J:228708 )

• mice show points of attachment of the premaxillary bones to the ipsilateral maxillary and frontal bones at P0 compared to complete disarticulation of these bones in controls

• mice show a lack of dissociation of the supero-lateral junctions of the vertical processes of the paired palatine bones with the basisphenoid bone

abnormal maxillary-premaxillary suture morphology ( J:228708 )

• P0 skulls show a smoothened appearance of the osteogenic fronts of the premaxillary suture compared to the interdigitated appearance of controls

• premaxillary sutures exhibit an absence of suture fusion at P0 but show fusion of the premaxillary-maxillary suture at P3

• mice show reduced width of the intrasutural mesenchyme between the maxillary and premaxillary bones in the sagittal plane

abnormal palatine bone morphology ( J:228708 )

• severe palatine bone dysplasia involving the vertical bony processes, with this process curving anteriorly instead of posteriorly

• premature fusion of the palatine-basisphenoid bones

midface hypoplasia ( J:228708 )

• mice develop midface hypoplasia from P3 onward

growth/size/body

midface hypoplasia ( J:228708 )

• mice develop midface hypoplasia from P3 onward

skeleton

abnormal basisphenoid bone morphology ( J:228708 )

• premature fusion of the palatine-basisphenoid bones

abnormal viscerocranium morphology ( J:228708 )

• mice show points of attachment of the premaxillary bones to the ipsilateral maxillary and frontal bones at P0 compared to complete disarticulation of these bones in controls

• mice show a lack of dissociation of the supero-lateral junctions of the vertical processes of the paired palatine bones with the basisphenoid bone

abnormal maxillary-premaxillary suture morphology ( J:228708 )

• P0 skulls show a smoothened appearance of the osteogenic fronts of the premaxillary suture compared to the interdigitated appearance of controls

• premaxillary sutures exhibit an absence of suture fusion at P0 but show fusion of the premaxillary-maxillary suture at P3

• mice show reduced width of the intrasutural mesenchyme between the maxillary and premaxillary bones in the sagittal plane

abnormal palatine bone morphology ( J:228708 )

• severe palatine bone dysplasia involving the vertical bony processes, with this process curving anteriorly instead of posteriorly

• premature fusion of the palatine-basisphenoid bones

premature maxillary-premaxillary suture closure ( J:228708 )

• mice show fusion of the premaxillary-maxillary suture at P3

• however, the maxillary-palatine and nasal-frontal midfacial sutures do not show premature fusion at P3

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Pfeiffer syndrome		DOID:14705	OMIM:101600	J:228708