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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Pdgfratm5Sor
targeted mutation 5, Philippe Soriano
MGI:2656146
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Pdgfratm5Sor/Pdgfratm5Sor either: 129S4/SvJaeSor-Pdgfratm5Sor or (involves: 129S4/SvJaeSor * C57BL/6J) MGI:3694471
ht2
 		Pdgfratm5Sor/Pdgfratm11(EGFP)Sor either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6J) MGI:3694482
cx3
 		Pdgfratm5Sor/Pdgfratm5Sor
Pdgfrbtm3Sor/Pdgfrbtm3Sor 		either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6J) MGI:3694481


Genotype
MGI:3694471
hm1
Allelic
Composition		 Pdgfratm5Sor/Pdgfratm5Sor
Genetic
Background		 either: 129S4/SvJaeSor-Pdgfratm5Sor or (involves: 129S4/SvJaeSor * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdgfratm5Sor mutation (1 available); any Pdgfra mutation (85 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
neonatal lethality, incomplete penetrance ( J:73817 )
• majority die neonatally
postnatal lethality, complete penetrance ( J:73817 )
• all homozygotes that survive past birth die by P16

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

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
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
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




Genotype
MGI:3694482
ht2
Allelic
Composition		 Pdgfratm5Sor/Pdgfratm11(EGFP)Sor
Genetic
Background		 either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdgfratm11(EGFP)Sor mutation (1 available); any Pdgfra mutation (85 available)
Pdgfratm5Sor mutation (1 available); any Pdgfra mutation (85 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
decreased oligodendrocyte progenitor number ( J:73817 )
• the oligodendrocyte progenitor cell population is reduced throughout embryogenesis
abnormal oligodendrocyte morphology ( J:73817 )
• oligodendrocyte progenitor cell (OPC) migration away from their point of origin in the ventricular zone is inhibited between E12.5 and E13.5; although some OPCs eventually migrate out from the ventricular zone, they fail to evenly populate the spinal cord by the end of embryogenesis when myelination begins

cellular
decreased oligodendrocyte progenitor number ( J:73817 )
• the oligodendrocyte progenitor cell population is reduced throughout embryogenesis




Genotype
MGI:3694481
cx3
Allelic
Composition		 Pdgfratm5Sor/Pdgfratm5Sor
Pdgfrbtm3Sor/Pdgfrbtm3Sor
Genetic
Background		 either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdgfratm5Sor mutation (1 available); any Pdgfra mutation (85 available)
Pdgfrbtm3Sor mutation (1 available); any Pdgfrb mutation (84 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
growth/size/body
midline facial cleft ( J:73817 )
• facial clefting
embryonic growth retardation ( J:73817 )
• a proportion display earlier embryonic defects such as growth retardation

embryo
incomplete embryo turning ( J:73817 )
• in most severe cases, fail to complete turning
embryonic growth retardation ( J:73817 )
• a proportion display earlier embryonic defects such as growth retardation
open neural tube ( J:73817 )
• in most severe cases, fail to complete the fusion of the neural folds by midgestation
failure of chorioallantoic fusion ( J:73817 )
• in most severe cases, fail to complete the fusion of chorion and allantois

craniofacial
midline facial cleft ( J:73817 )
• facial clefting

nervous system
open neural tube ( J:73817 )
• in most severe cases, fail to complete the fusion of the neural folds by midgestation

skeleton

integument
fetal bleb ( J:73817 )
• blebbing along the trunk of the embryo




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory