Phenotypes Associated with This Genotype

Genotype
MGI:3837568

• Allelic Composition: Cert1^{Gt(RRF047)Byg}/Cert1^{Gt(RRF047)Byg}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

Cardiac defects in Cert1^{Gt(RRF047)Byg}/Cert1^{Gt(RRF047)Byg} embryos

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:146172 )

• die between E11.5 and E12.5

cardiovascular system

abnormal cardiac outflow tract development ( J:146172 )

• at E9.5 the truncus arteriosus appears thin, transparent and swollen

abnormal heart morphology ( J:146172 )

• at E9.5 in some embryos the entire heart appears swollen with thin transparent walls

abnormal myocardial fiber mitochondrial morphology ( J:146172 )

• at E9.5 mitochondrial changes are visible in cells from the heart and optic cup

• at E10.5 mitochondria in the heart appear pale and engorged and many lack cristae

• at E10.5 degenerating mitochondria are seen in the optic cup

increased cardiac jelly amount ( J:146172 )

• the cardiac jelly is enlarged in many embryos

increased heart ventricle size ( J:146172 )

• at E10.5

thin ventricular wall ( J:146172 )

• at E10.5, walls are thin and fragile

abnormal cardiovascular system physiology ( J:146172 )

• some embryos show complete regurgitation of the blood into the heart during diastole

decreased ventricle muscle contractility ( J:146172 )

• at E9.5 ventricular contractions appear weaker and blood accumulates in the ventricles of some embryos

cellular

cellular phenotype ( J:146172 )

N • no increase in apoptosis is detected in embryos at E10.5

abnormal myocardial fiber mitochondrial morphology ( J:146172 )

• at E9.5 mitochondrial changes are visible in cells from the heart and optic cup

• at E10.5 mitochondria in the heart appear pale and engorged and many lack cristae

• at E10.5 degenerating mitochondria are seen in the optic cup

abnormal endoplasmic reticulum morphology ( J:146172 )

• at E9.5 endoplasmic reticuli from cells in the heart and optic cup show signs of engorgement and vesiculation

• at E10.5 endoplasmic reticulum from cells in the endocardial, muscular and epicardial regions of the heart show proliferation, vesiculation and engorgement

• engorged endoplasmic reticuli are accompanied by an accumulation of lipoid bodies

abnormal cell physiology ( J:146172 )

• at E10.5 plasma membrane ceramide levels are reduced while in the endoplasmic reticulum ceramide levels are increased

• however, plasma membrane fluidity is similar to controls

decreased cell proliferation ( J:146172 )

• in embryos at E10.5

abnormal mitochondrial physiology ( J:146172 )

• ceramide levels are elevated

• assays suggest that mitochondrial function is impaired

homeostasis/metabolism

abnormal lipid homeostasis ( J:146172 )

• reduced sphingomyelin levels at E10.5

• total hexosylceramide content is reduced at E10.5

embryo

decreased embryo size ( J:146172 )

• at E7.5 - E10.5

growth/size/body

decreased embryo size ( J:146172 )

• at E7.5 - E10.5

muscle

abnormal myocardial fiber mitochondrial morphology ( J:146172 )

• at E9.5 mitochondrial changes are visible in cells from the heart and optic cup

• at E10.5 mitochondria in the heart appear pale and engorged and many lack cristae

• at E10.5 degenerating mitochondria are seen in the optic cup

decreased ventricle muscle contractility ( J:146172 )

• at E9.5 ventricular contractions appear weaker and blood accumulates in the ventricles of some embryos