Phenotypes Associated with This Genotype

Genotype
MGI:3694471

• Allelic Composition: Pdgfra^tm5Sor/Pdgfra^tm5Sor
• Genetic Background: either: 129S4/SvJaeSor-Pdgfra^tm5Sor or (involves: 129S4/SvJaeSor * C57BL/6J)

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

mortality/aging

postnatal lethality, complete penetrance ( J:73817 )

• all homozygotes that survive past birth die by P16

neonatal lethality, incomplete penetrance ( J:73817 )

• majority die neonatally

growth/size/body

palatal shelves fail to meet at midline ( J:73817 )

cleft secondary palate ( J:73817 )

• 71% exhibit cleft palate, however none show midline facial or nasal clefting

decreased body size ( J:73817 )

• homozygotes that survive past birth are about 40% the size of wild-type by P16

respiratory system

abnormal pulmonary alveolus morphology ( J:73817 )

• exhibit failed alveolar septation

emphysema ( J:73817 )

• lungs are emphysematous in appearance

respiratory failure ( J:73817 )

skeleton

abnormal pectoral girdle bone morphology ( J:73817 )

• 14 of 14 show abnormal development of the shoulder girdle

abnormal sternum morphology ( J:73817 )

• 4 of 14 show failed closure of the sternum

abnormal cervical vertebrae morphology ( J:73817 )

• 14 of 14 show cervical vertebrae malformations

craniofacial

palatal shelves fail to meet at midline ( J:73817 )

cleft secondary palate ( J:73817 )

• 71% exhibit cleft palate, however none show midline facial or nasal clefting

nervous system

spina bifida ( J:73817 )

• 13 of 14 exhibit spina bifida

abnormal myelination ( J:73817 )

• most regions of the CNS displays severe hypomyelination

digestive/alimentary system

palatal shelves fail to meet at midline ( J:73817 )

cleft secondary palate ( J:73817 )

• 71% exhibit cleft palate, however none show midline facial or nasal clefting

embryo

spina bifida ( J:73817 )

• 13 of 14 exhibit spina bifida