Mouse Genome Informatics
ht
    Fgfr2tm2.3Dsn/Fgfr2+
involves: 129 * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Percocious ossification of coronal sutures and the sternum in Fgfr2tm2.3Dsn/Fgfr2+ mice

mortality/aging
• mice died within 9 days of birth

craniofacial
• rounded skull with dorso ventral extension of the cranium
• zygomatic arch bones were fused at their joints
• associated with the premature coronal suture fusion

digestive/alimentary system
N
• normal stomach and gut architecture and innervation (J:72517)

endocrine/exocrine glands
N
• adrenal glands were of normal size (J:72517)
• P1 mutants show a lack of exorbital lacrimal gland development

growth/size
• 90% are slightly smaller at birth
• mutants do not gain weight after birth and die within 9 days

homeostasis/metabolism
• putatively due to malnutrition resulting from a gastrointestinal defect

liver/biliary system
• mild lobulation defect

renal/urinary system
• fewer glomeruli relative to wild-type
• fewer and degenerating glomeruli are seen at P2
• kidneys did not grow beyond their birth size
• fewer developing nephrons in the cortical region at E14.5
• distal tubules are dilated
• proximal tubules are dilated

respiratory system
• lung mesenchyme is more compact and often congested with red blood cells at P1
• incomplete aveolarization
• partial lobulation of the right lung
• fewer bronchioles lined with ciliated cells and fewer branched alveolar structures
• development of fewer bronchioles lined with ciliated cells
• three partially separated pulmonary lobes rather than the four observed in wild-type

skeleton
• rounded skull with dorso ventral extension of the cranium
• zygomatic arch bones were fused at their joints
• associated with the premature coronal suture fusion
• individual sternebrae are thicker and less congruent
• manubrium is bifurcated
• abnormal ossification of the intersternebral cartilage, first observed at E16.5
• ossification of the coronal sutures by E18

vision/eye
• P1 mutants show a lack of exorbital lacrimal gland development
• due to shallow orbits resulting from zygomatic bone abnormalities

Mouse Models of Human Disease
OMIM IDRef(s)
Apert Syndrome 101200 J:72517
Pfeiffer Syndrome 101600 J:72517