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Phenotypes Associated with This Genotype
Genotype
MGI:5790247
Allelic
Composition
Fgfr1tm2.1Cxd/Fgfr1+
Genetic
Background
D2.129S6(Cg)-Fgfr1tm2.1Cxd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1tm2.1Cxd mutation (0 available); any Fgfr1 mutation (221 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• premature fusion of the palatine-basisphenoid bones
• 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
• 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
• severe palatine bone dysplasia involving the vertical bony processes, with this process curving anteriorly instead of posteriorly
• premature fusion of the palatine-basisphenoid bones
• mice develop midface hypoplasia from P3 onward

growth/size/body
• mice develop midface hypoplasia from P3 onward

skeleton
• premature fusion of the palatine-basisphenoid bones
• 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
• 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
• severe palatine bone dysplasia involving the vertical bony processes, with this process curving anteriorly instead of posteriorly
• premature fusion of the palatine-basisphenoid bones
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory