Phenotypes associated with this allele

• Allele Symbol: Pdgfrb^tm5Sor
• Allele Name: targeted mutation 5, Philippe Soriano
• Allele ID: MGI:2135534
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pdgfrb^tm5Sor/Pdgfrb^tm5Sor	either: 129S4/SvJaeSor-Pdgfra^tm5Sor or (involves: 129S4/SvJaeSor * C57BL/6)	MGI:3693869
ht2	Pdgfrb^tm1Sor/Pdgfrb^tm5Sor	either: (involves: 129S4/SvJaeSor * 129S7/SvEvBrd) or (involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6)	MGI:3693871

Genotype
MGI:3693869

hm1

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

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

cardiovascular system

enlarged heart ( J:67735 )

• the heart-to-body weight ratio exceeds controls by 26%

homeostasis/metabolism

abnormal glomerular capillary thrombosis ( J:67735 )

• in a model of crescentic glomerulonephritis, mutants fail to resolve the glomerular injury and show formation of thrombus that is not observed in wild-type

increased susceptibility to injury ( J:67735 )

• in a model of crescentic glomerulonephritis, mutants fail to resolve the glomerular injury and show formation of thrombus that is not observed in wild-type

growth/size/body

enlarged heart ( J:67735 )

• the heart-to-body weight ratio exceeds controls by 26%

Genotype
MGI:3693871

ht2

• Allelic Composition: Pdgfrb^tm1Sor/Pdgfrb^tm5Sor
• Genetic Background: either: (involves: 129S4/SvJaeSor * 129S7/SvEvBrd) or (involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6)

mortality/aging

perinatal lethality, incomplete penetrance ( J:67735 )

• 41% die perinatally

postnatal lethality, incomplete penetrance ( J:67735 )

• 58% die before 21 days of age

growth/size/body

enlarged heart ( J:67735 )

• the heart-to-body weight ratio exceeds controls by 105%

kidney cyst ( J:67735 )

• mutants that survive to adulthood display kidneys that often contain 1-5 simple renal cysts

decreased body size ( J:67735 )

• mutants that die before 21 days of age are typically half the size of control littermates

cardiovascular system

abnormal retina vasculature morphology ( J:67735 )

• mutants crossed to a beta-galactosidase transgene in pericytes show that retinas contain highly disorganized vasculature, prominent areas of hemorrhaging and a paucity of pericytes both at the center and out toward the periphery of the tissue

kidney microaneurysm ( J:67735 )

• 9 of 11 exhibit kidney microaneurysms

abnormal pericyte morphology ( J:67735 )

• exhibit loss of pericytes at the retinal microvasculature

myocardial fiber disarray ( J:67735 )

• myofibers are highly disorganized

enlarged heart ( J:67735 )

• the heart-to-body weight ratio exceeds controls by 105%

abnormal heart left ventricle morphology ( J:67735 )

• show thickening of the left ventricle

dilated heart right ventricle ( J:67735 )

• show distension of the right ventricle

hemorrhage ( J:67735 )

• most likely die due to hemorrhaging as autopsy often shows clots of blood surrounding the heart

retina hemorrhage ( J:67735 )

• retinas contain prominent areas of hemorrhaging

renal/urinary system

kidney microaneurysm ( J:67735 )

• 9 of 11 exhibit kidney microaneurysms

kidney cyst ( J:67735 )

• mutants that survive to adulthood display kidneys that often contain 1-5 simple renal cysts

abnormal renal glomerulus morphology ( J:67735 )

• 9 of 11 exhibit many abnormal glomeruli (60-80%) that lack the formation of a capillary tuft at E18.5

abnormal mesangial cell morphology ( J:67735 )

• mesangial cell development is inhibited

glomerulosclerosis ( J:67735 )

• 30-60% of glomeruli are damaged by glomerulosclerosis; observe as early as 28 days after birth and fully penetrant by 3 months of age

vision/eye

abnormal eye morphology ( J:67735 )

• as early as 27 days following birth, observe a cotton-like opacity in the center of the eye and develop a proliferative retinopathy

abnormal retina vasculature morphology ( J:67735 )

• mutants crossed to a beta-galactosidase transgene in pericytes show that retinas contain highly disorganized vasculature, prominent areas of hemorrhaging and a paucity of pericytes both at the center and out toward the periphery of the tissue

retina hemorrhage ( J:67735 )

• retinas contain prominent areas of hemorrhaging

retina detachment ( J:67735 )

• retina is detached from the posterior of the eye, migrates into the vitreous body, and loses its normal layered appearance, a phenotype that resembles diabetic retinopathy

muscle

myocardial fiber disarray ( J:67735 )

• myofibers are highly disorganized

cellular

abnormal mesangial cell morphology ( J:67735 )

• mesangial cell development is inhibited