Phenotypes Associated with This Genotype

Genotype
MGI:3511133

cx4

• Allelic Composition: Pdgfa^tm1Cbet/Pdgfa^tm1Cbet; Pdgfc^tm1Nagy/Pdgfc^tm1Nagy
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:93954 )

• double homozygotes die after E10.5

cardiovascular system

common atrium ( J:93954 )

• at E15.5 atrial septa are absent in double homozygous embryos generated using tetraploid chimeras

pericardial effusion ( J:93954 )

• pericardial effusion is seen at E10.5

craniofacial

abnormal craniofacial bone morphology ( J:93954 )

• craniofacial bone defects similar to those in Pdgfra null embryos are seen

midline facial cleft ( J:93954 )

• at E11.5 a cleft face is seen in double homozygous embryos generated using tetraploid chimeras

embryo

decreased embryo size ( J:93954 )

• at E10.5 double homozygotes are growth retarded

spina bifida ( J:93954 )

• at E13.5 incomplete neural arch of vertebrae is seen in double homozygous embryos generated using tetraploid chimeras

wavy neural tube ( J:93954 )

• a wavy neural tube is seen at E10.5

abnormal somite development ( J:93954 )

• at E10.5 disorganized sclerotome, dermomyotome, and myotome is seen in somites of the cervical region of double homozygous embryos generated using tetraploid chimeras

growth/size/body

midline facial cleft ( J:93954 )

• at E11.5 a cleft face is seen in double homozygous embryos generated using tetraploid chimeras

decreased embryo size ( J:93954 )

• at E10.5 double homozygotes are growth retarded

homeostasis/metabolism

pericardial effusion ( J:93954 )

• pericardial effusion is seen at E10.5

hydrops fetalis ( J:93954 )

• edema is seen in double homozygous embryos generated using tetraploid chimeras

muscle

abnormal myotome development ( J:93954 )

• at E10.5 the myotome of somites in the lower occipital and cervical region is necrotic and poorly organized

• the metameric organization of myotomes in somites of the cervical region is disorganized at E10.5 in double homozygous embryos generated using tetraploid chimeras

renal/urinary system

abnormal kidney cortex morphology ( J:93954 )

• at E15.5 decreased interstitial mesenchyme is seen in the kidney cortex of double homozygous embryos generated using tetraploid chimeras

skeleton

abnormal scapula morphology ( J:93954 )

• at E14.5 retarded formation of the scapula is seen in double homozygous embryos generated using tetraploid chimeras

abnormal axial skeleton morphology ( J:93954 )

abnormal craniofacial bone morphology ( J:93954 )

• craniofacial bone defects similar to those in Pdgfra null embryos are seen

short sternum ( J:93954 )

• at E14.5 a short sternum is seen in double homozygous embryos generated using tetraploid chimeras

rib bifurcation ( J:93954 )

• at E14.5 rib bifurcations and fusions are seen in double homozygous embryos generated using tetraploid chimeras

rib fusion ( J:93954 )

• at E14.5 rib bifurcations and fusions are seen in double homozygous embryos generated using tetraploid chimeras

nervous system

spina bifida ( J:93954 )

• at E13.5 incomplete neural arch of vertebrae is seen in double homozygous embryos generated using tetraploid chimeras

wavy neural tube ( J:93954 )

• a wavy neural tube is seen at E10.5

integument

blistering ( J:93954 )

• subepidermal blistering is seen at E10.5