Phenotypes Associated with This Genotype

Genotype
MGI:2176483

• Allelic Composition: Fgfr2^tm2.3Dsn/Fgfr2⁺
• Genetic Background: involves: 129 * C57BL/6 * FVB/N

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

Percocious ossification of coronal sutures and the sternum in Fgfr2^tm2.3Dsn/Fgfr2⁺ mice

mortality/aging

postnatal lethality, complete penetrance ( J:72517 )

• mice died within 9 days of birth

craniofacial

abnormal neurocranium morphology ( J:72517 )

• rounded skull with dorso ventral extension of the cranium

abnormal zygomatic arch morphology ( J:72517 )

• zygomatic arch bones were fused at their joints

shallow orbits ( J:72517 )

short maxilla ( J:72517 )

• associated with the premature coronal suture fusion

domed cranium ( J:72517 )

short snout ( J:72517 )

digestive/alimentary system

digestive/alimentary phenotype ( J:72517 )

N • normal stomach and gut architecture and innervation

abnormal intestinal glucose absorption ( J:72517 )

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:72517 )

N • adrenal glands were of normal size

absent exorbital lacrimal gland ( J:72517 )

• P1 mutants show a lack of exorbital lacrimal gland development

growth/size/body

short snout ( J:72517 )

decreased body size ( J:72517 )

• 90% are slightly smaller at birth

postnatal growth retardation ( J:72517 )

• mutants do not gain weight after birth and die within 9 days

homeostasis/metabolism

hypoglycemia ( J:72517 )

• putatively due to malnutrition resulting from a gastrointestinal defect

liver/biliary system

abnormal liver development ( J:72517 )

• mild lobulation defect

renal/urinary system

abnormal kidney cortex morphology ( J:72517 )

• fewer glomeruli relative to wild-type

decreased renal glomerulus number ( J:72517 )

• fewer and degenerating glomeruli are seen at P2

small kidney ( J:72517 )

• kidneys did not grow beyond their birth size

decreased nephron number ( J:72517 )

• fewer developing nephrons in the cortical region at E14.5

dilated distal convoluted tubule ( J:72517 )

• distal tubules are dilated

dilated proximal convoluted tubule ( J:72517 )

• proximal tubules are dilated

respiratory system

abnormal lung morphology ( J:72517 )

• lung mesenchyme is more compact and often congested with red blood cells at P1

impaired lung alveolus development ( J:72517 )

• incomplete aveolarization

impaired lung lobe morphogenesis ( J:72517 )

• partial lobulation of the right lung

small lung ( J:72517 )

abnormal pulmonary acinus morphology ( J:72517 )

• fewer bronchioles lined with ciliated cells and fewer branched alveolar structures

abnormal bronchiole morphology ( J:72517 )

• development of fewer bronchioles lined with ciliated cells

abnormal right lung morphology ( J:72517 )

• three partially separated pulmonary lobes rather than the four observed in wild-type

skeleton

abnormal neurocranium morphology ( J:72517 )

• rounded skull with dorso ventral extension of the cranium

abnormal zygomatic arch morphology ( J:72517 )

• zygomatic arch bones were fused at their joints

shallow orbits ( J:72517 )

short maxilla ( J:72517 )

• associated with the premature coronal suture fusion

domed cranium ( J:72517 )

abnormal sternebra morphology ( J:72517 )

• individual sternebrae are thicker and less congruent

split sternal manubrium ( J:72517 )

• manubrium is bifurcated

split xiphoid process ( J:72517 )

abnormal sternum ossification ( J:72517 )

• abnormal ossification of the intersternebral cartilage, first observed at E16.5

premature coronal suture closure ( J:72517 )

• ossification of the coronal sutures by E18

vision/eye

shallow orbits ( J:72517 )

absent exorbital lacrimal gland ( J:72517 )

• P1 mutants show a lack of exorbital lacrimal gland development

exophthalmos ( J:72517 )

• due to shallow orbits resulting from zygomatic bone abnormalities

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acrocephalosyndactylia		DOID:12960	OMIM:101200	J:72517
Pfeiffer syndrome		DOID:14705	OMIM:101600	J:72517