Mouse Genome Informatics
cn
    Fgfr2tm2Ewj/Fgfr2+
Tg(EIIa-cre)C5379Lmgd/0

B6.Cg-Fgfr2tm2Ewj Tg(EIIa-cre)C5379Lmgd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• almost half of all mice die within 24 to 36 hours of birth
• most mice die within 2 weeks of birth with very few surviving to 3 weeks

skeleton
• the anterior and overall length of the cranial base is decreased compared to in wild-type mice
• mice exhibit a patent inter-premaxillary suture with fusion of the premaxilla-maxillary sutures unlike wild-type mice
• mice exhibit premature closure of the suture between the zygomatic process of the maxilla and the zygomatic bones and the premaxillary-maxillary sutures unlike wild-type mice
• mice exhibit unilateral or bilateral coronal synostosis unlike wild-type mice
• with proximate osteogenic fronts and cellular disorganization at P0
• at E16.5 to P0, mice exhibit ectopic cartilage at the sagittal suture unlike wild-type mice
• skull height is increased compared to in wild-type mice
• the zygomatic process of the maxilla and malar bone are fused unlike in wild-type mice
• the nasal region is shorter than in wild-type mice and cre-recombined Fgfr2tm1Ewj heterozygotes
• the zygomatic process of the maxilla and malar bone are fused unlike in wild-type mice
• at P10
• at P10
• at P10
• at P10
• at P0, all mice exhibit bony fusions of the sternum unlike wild-type mice
• coronal sutures exhibit increased osteogenic differentiation and accelerated bone growth compared to in wild-type mice
• however, apoptosis rates at coronal sutures is normal
• at E17.5 to P0, the physis hypertrophic zone is disorganized compared to in wild-type mice
• as determined by marker expression at E19, osteoblast differentiation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice
• at P0, mice exhibit coronal suture presynostosis unlike wild-type mice
• at E19, osteoblast proliferation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice

craniofacial
• the anterior and overall length of the cranial base is decreased compared to in wild-type mice
• mice exhibit a patent inter-premaxillary suture with fusion of the premaxilla-maxillary sutures unlike wild-type mice
• mice exhibit premature closure of the suture between the zygomatic process of the maxilla and the zygomatic bones and the premaxillary-maxillary sutures unlike wild-type mice
• mice exhibit unilateral or bilateral coronal synostosis unlike wild-type mice
• with proximate osteogenic fronts and cellular disorganization at P0
• at E16.5 to P0, mice exhibit ectopic cartilage at the sagittal suture unlike wild-type mice
• skull height is increased compared to in wild-type mice
• the zygomatic process of the maxilla and malar bone are fused unlike in wild-type mice
• the nasal region is shorter than in wild-type mice and cre-recombined Fgfr2tm1Ewj heterozygotes
• the zygomatic process of the maxilla and malar bone are fused unlike in wild-type mice
• from E15.5 to P0, all mice exhibit bilaterally incomplete fusion at the junction of the primary and secondary palatal shelves unlike in wild-type mice
• the midline suture between the horizontal plates of the palatine bones is patent unlike in wild-type mice
• in 9 of 10 mice the suture between the horizontal plate of the palatine bone and the palatal shelf of the maxilla is patent compared with 3 of 7 wild-type mice

growth/size
• from E15.5 to P0, all mice exhibit bilaterally incomplete fusion at the junction of the primary and secondary palatal shelves unlike in wild-type mice
• the midline suture between the horizontal plates of the palatine bones is patent unlike in wild-type mice
• in 9 of 10 mice the suture between the horizontal plate of the palatine bone and the palatal shelf of the maxilla is patent compared with 3 of 7 wild-type mice
• beginning at P5

digestive/alimentary system
• from E15.5 to P0, all mice exhibit bilaterally incomplete fusion at the junction of the primary and secondary palatal shelves unlike in wild-type mice
• the midline suture between the horizontal plates of the palatine bones is patent unlike in wild-type mice
• in 9 of 10 mice the suture between the horizontal plate of the palatine bone and the palatal shelf of the maxilla is patent compared with 3 of 7 wild-type mice

limbs/digits/tail
• at P10
• at P10
• at P10
• at P10

cellular
• as determined by marker expression at E19, osteoblast differentiation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice

vision/eye
• intercanthal distance is reduced compared to in wild-type mice

Mouse Models of Human Disease
OMIM IDRef(s)
Apert Syndrome 101200 J:158773