Phenotypes Associated with This Genotype

Genotype
MGI:4818797

• Allelic Composition: Pdgfra^tm2Sor/Pdgfra^tm2Sor
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:160875 )

• 50% of mice die before E10

muscle

abnormal diaphragm development ( J:160875 )

• at E12, some surviving mice exhibit little to no diaphragm formation unlike wild-type mice

diaphragmatic hernia ( J:160875 )

• at E12, some surviving mice exhibit delayed closure of bilateral posterior pleuroperitoneal folds unlike wild-type mice

• 2 of 7 mice exhibit open posterior pleuroperitoneal folds with variable herniation of the stomach into the thorax unlike wild-type mice

respiratory system

pulmonary hypoplasia ( J:160875 )

cardiovascular system

ventricular septal defect ( J:160875 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital diaphragmatic hernia		DOID:3827	OMIM:142340 OMIM:222400 OMIM:610187	J:160875