mortality/aging
• most pups die at birth without inflating their lungs
• about 10% of homozygotes survive to maturity
|
cardiovascular system
• at E14.5 embryos have a congested venous system
|
• at E14.5 and E18.5 both atria are dilated
|
• surviving homozygous male mutants have significantly increased heart weights
|
• at E14.5 and E18.5 the ventricles are smaller
|
• at E14.5 and E18.5 reduced trabecular structure is seen
|
• at E14.5 ventricular septal abnormalities are seen
|
• at E14.5 and E18.5 the ventricles have thinner walls compared to wild-type mice
|
• in some cases an increased pericardial space is seen
|
• 12 and 16 month old surviving homozygous male mutants display cardiac fibrosis
|
• pooling of blood is seen in mutant atria
|
• liver hemorrhages are seen at E14.5
|
• reduced cardiomyocyte proliferation is seen in the wall of mutant heart ventricles
|
homeostasis/metabolism
• surviving homozygous mutants are glycogen deficient
|
muscle
• at E14.5 and E18.5 reduced trabecular structure is seen
|
• reduced cardiomyocyte proliferation is seen in the wall of mutant heart ventricles
|
respiratory system
cellular
• reduced cardiomyocyte proliferation is seen in the wall of mutant heart ventricles
|
liver/biliary system
• liver hemorrhages are seen at E14.5
|
growth/size/body
• surviving homozygous male mutants have significantly increased heart weights
|