Phenotypes Associated with This Genotype

Genotype
MGI:2663637

• Allelic Composition: Pdgfra^{tm10(Pdgfra/tor)Sor}/Pdgfra^{tm10(Pdgfra/tor)Sor}
• Genetic Background: either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:83560 )

• most mutant embryos die by E15.5 but a small percentage (9%) survive to E18.5

cardiovascular system

cardiovascular system phenotype ( J:83560 )

N • angiogenesis is normal and hemorrhaging is rarely present

abnormal heart septum morphology ( J:83560 )

• mutants exhibiting severe facial clefting show incomplete septa formation; mutants with little facial clefting do not display septation defects

craniofacial

cleft palate ( J:83560 )

• late-stage fetuses display a cleft face or palate

midline facial cleft ( J:83560 )

• 10% of mutant embryos exhibit severe facial clefting, but remaining mutants display lesser degree of facial clefting compared to Pdgfra-null mutants

skeleton

absent sternum ( J:83560 )

• ribs do not fuse at the midline and thus do not form the sternum

abnormal rib joint morphology ( J:83560 )

• failure of ribs to fuse at the midline

nervous system

open neural tube ( J:83560 )

• late-stage fetuses show failed ventral closure

spina bifida ( J:83560 )

• late-stage fetuses show failed ventral closure and spina bifida, although defects are less severe than in Pdgfra null mice

homeostasis/metabolism

hydrops fetalis ( J:83560 )

• edema is detected only in very-late stage (E17) mutants

digestive/alimentary system

cleft palate ( J:83560 )

• late-stage fetuses display a cleft face or palate

embryo

open neural tube ( J:83560 )

• late-stage fetuses show failed ventral closure

spina bifida ( J:83560 )

• late-stage fetuses show failed ventral closure and spina bifida, although defects are less severe than in Pdgfra null mice

growth/size/body

cleft palate ( J:83560 )

• late-stage fetuses display a cleft face or palate

midline facial cleft ( J:83560 )

• 10% of mutant embryos exhibit severe facial clefting, but remaining mutants display lesser degree of facial clefting compared to Pdgfra-null mutants