Mouse Genome Informatics
cn1
    Fgfr2tm2Cxd/Fgfr2+
Tg(EIIa-cre)C5379Lmgd/0

involves: 129S6/SvEvTac * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• mutants with severe cranial abnormalities die within 20 days of birth, less severely affected mutants survive to adulthood

growth/size
• severely affected mutants are very small compared to wild-type mice, less severely affected mutants are 70-80% of the size of wild-type littermates

skeleton
• some adults have asymmetrical skulls; however no obvious hand/foot abnormalities are seen
• at P1 and P8 increased apoptosis is seen with the highest levels seen in the parietal and frontal bones; however no significant difference in osteoblast proliferation (at E16.5, E18.5, P1, P5, and P8) or differentiation (at E18.5, P1, and P18) is seen in the sutures
• premature closure of the coronal suture is first seen around E18.5 with more significant overlap between the osteogenic fronts developing over time and fewer mesenchymal cells are found in the coronal suture at birth
• development of the sagittal suture is slightly delayed
• significant shortening of the anterior-posterior axis
• calvarial bone formation is decreased
• the frontal bone is thinner and at P1 and P8 increased apoptosis is seen
• the parietal bone is thinner and at P1 and P8 increased apoptosis is seen
• the presphenoid bone is significantly shorter
• after P10 some mutants have slightly shorter columns of proliferating chondrocytes
• craniosynostosis is most pronounced in the coronal suture

vision/eye

reproductive system
• all surviving females are sterile (J:101385)
• only 1 male generated 2 litters when mated with a wild-type female (J:101385)

craniofacial
• cranial abnormalities vary in severity and the severely affected mutants die postnatally
• some adults have asymmetrical skulls; however no obvious hand/foot abnormalities are seen
• at P1 and P8 increased apoptosis is seen with the highest levels seen in the parietal and frontal bones; however no significant difference in osteoblast proliferation (at E16.5, E18.5, P1, P5, and P8) or differentiation (at E18.5, P1, and P18) is seen in the sutures
• premature closure of the coronal suture is first seen around E18.5 with more significant overlap between the osteogenic fronts developing over time and fewer mesenchymal cells are found in the coronal suture at birth
• development of the sagittal suture is slightly delayed
• significant shortening of the anterior-posterior axis
• calvarial bone formation is decreased
• the frontal bone is thinner and at P1 and P8 increased apoptosis is seen
• the parietal bone is thinner and at P1 and P8 increased apoptosis is seen
• the presphenoid bone is significantly shorter
• midface hypoplasia

embryogenesis
• severely affected mutants are very small compared to wild-type mice, less severely affected mutants are 70-80% of the size of wild-type littermates

Mouse Models of Human Disease
OMIM IDRef(s)
Apert Syndrome 101200 J:101385