Phenotypes Associated with This Genotype

Genotype
MGI:5437223

• Allelic Composition: Sox7^tm1.1Dsco/Sox7^tm1.1Dsco
• Genetic Background: involves: 129S/SvEv * C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:187416 )

• almost all die between E10.5 and E14.5, rare survivors are found beyond E14.5

embryo

embryonic growth retardation ( J:187416 )

• detected in many (22 of 28) embryos at E10.5

abnormal vitelline vascular remodeling ( J:187416 )

• many (22 of 28) display failure of yolk sac remodeling at E10.5

homeostasis/metabolism

pericardial edema ( J:187416 )

• in many (17 of 28) mice at E10.5

cardiovascular system

abnormal cardiac epithelial to mesenchymal transition ( J:338879 )

• collagen gel atrioventricular canal explants from E9.5 embryos showed significantly lower numbers of migrating mesenchymal cells than wild-type explants, suggesting a decrease in endocardial-to-mesenchymal transition (EndMT)

• RNA-seq analysis of E9.5 heart tubes showed alterations in genes involved in epithelial-to-mesenchymal transition with marked downregulation of Wnt4 and, to a lesser extent, Bmp2

abnormal fetal atrioventricular canal morphology ( J:338879 )

• at E9.5, AV canals show significantly decreased Wnt4 transcript levels in the endocardium as well as reduced Bmp2 transcript levels in the myocardium

abnormal atrioventricular cushion morphology ( J:338879 )

• at E9.5/E10.5, atrioventricular (AV) endocardial cushions are hypocellular with a severe reduction in mesenchymal cell density relative to wild-type controls

• however, separation of the endocardium from the myocardium and the size of AV cushions are normal at E10.5

pericardial edema ( J:187416 )

• in many (17 of 28) mice at E10.5

growth/size/body

embryonic growth retardation ( J:187416 )

• detected in many (22 of 28) embryos at E10.5