Phenotypes Associated with This Genotype

Genotype
MGI:3053443

• Allelic Composition: Gys1^{Gt(OST33395)Lex}/Gys1^{Gt(OST33395)Lex}
• Genetic Background: involves: 129S5/SvEvBrd * 129X1/SvJ * C57BL/6J

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:92245 )

• most pups die at birth without inflating their lungs

• about 10% of homozygotes survive to maturity

cardiovascular system

blood vessel congestion ( J:92245 )

• at E14.5 embryos have a congested venous system

pulmonary vascular congestion ( J:92245 )

dilated heart atrium ( J:92245 )

• at E14.5 and E18.5 both atria are dilated

increased heart weight ( J:92245 )

• surviving homozygous male mutants have significantly increased heart weights

abnormal heart ventricle morphology ( J:92245 )

• at E14.5 and E18.5 the ventricles are smaller

trabecula carnea hypoplasia ( J:92245 )

• at E14.5 and E18.5 reduced trabecular structure is seen

abnormal interventricular septum morphology ( J:92245 )

• at E14.5 ventricular septal abnormalities are seen

thin ventricular wall ( J:92245 )

• at E14.5 and E18.5 the ventricles have thinner walls compared to wild-type mice

abnormal pericardial cavity morphology ( J:92245 )

• in some cases an increased pericardial space is seen

cardiac fibrosis ( J:92245 )

• 12 and 16 month old surviving homozygous male mutants display cardiac fibrosis

abnormal blood circulation ( J:92245 )

• pooling of blood is seen in mutant atria

liver hemorrhage ( J:92245 )

• liver hemorrhages are seen at E14.5

abnormal fetal cardiomyocyte proliferation ( J:92245 )

• reduced cardiomyocyte proliferation is seen in the wall of mutant heart ventricles

homeostasis/metabolism

decreased glycogen level ( J:92245 )

• surviving homozygous mutants are glycogen deficient

muscle

trabecula carnea hypoplasia ( J:92245 )

• at E14.5 and E18.5 reduced trabecular structure is seen

abnormal fetal cardiomyocyte proliferation ( J:92245 )

• reduced cardiomyocyte proliferation is seen in the wall of mutant heart ventricles

respiratory system

pulmonary vascular congestion ( J:92245 )

cellular

abnormal fetal cardiomyocyte proliferation ( J:92245 )

• reduced cardiomyocyte proliferation is seen in the wall of mutant heart ventricles

liver/biliary system

liver hemorrhage ( J:92245 )

• liver hemorrhages are seen at E14.5

growth/size/body

increased heart weight ( J:92245 )

• surviving homozygous male mutants have significantly increased heart weights