Phenotypes Associated with This Genotype

Genotype
MGI:7545275

• Allelic Composition: Pdgfra^tm2Sor/Pdgfra^tm2Sor
• Genetic Background: involves: 129S4/SvJaeSor

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

cardiovascular system

pulmonary vein hypoplasia ( J:157946 )

• at E12.5 in one of 3 embryos the left and right pulmonary veins are hypoplastic

dual inferior vena cava ( J:157946 )

abnormal dorsal mesocardium morphology ( J:157946 )

• inferior fusion defects resulting in notching of the inferior portion

• often hypoplastic

anomalous pulmonary venous connection ( J:157946 )

• at E12.5 in one of 3 embryos the common pulmonary vein ends blindly at the base of the atrial septum

total anomalous pulmonary venous connection ( J:157946 )

• rare but consistent phenotype

abnormal heart atrium morphology ( J:157946 )

• small atria in 1 of 3 embryos

respiratory system

pulmonary hypoplasia ( J:157946 )

• in 1 of 3 embryos at E13.5

• in 1 of 2 embryos the left PV is hypoplastic and the right is absent

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:157946 )

• most die before E13.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
scimitar syndrome		DOID:4297	OMIM:106700	J:157946