Phenotypes Associated with This Genotype

Genotype
MGI:5448058

• Allelic Composition: Top1mt^tm1.1Hlzh/Top1mt^tm1.1Hlzh
• Genetic Background: Not Specified

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

cellular

abnormal mitochondrial morphology ( J:189886 )

• increase in intracellular calcium concentration and presence of hyperfused mitochondria in MEFs

increased mitochondrial number ( J:189886 )

• increase in mitochondrial mass in MEFs

abnormal cell physiology ( J:189886 )

• increase in the extra-cellular acidification rate and lactate production in MEFs

abnormal autophagy ( J:189886 )

• expression analysis indicates increased autophagy in MEFs and in the liver

decreased fibroblast proliferation ( J:189886 )

• selective impairment of proliferation of MEFs by glucose starvation

abnormal cellular glucose uptake ( J:189886 )

• glucose uptake is increased by 50% in MEFs compared to wild-type cells

abnormal cellular respiration ( J:189886 )

• enhanced glycolysis and an decrease in ATP content in MEFs

• increase in O2 consumption rates and fatty acid oxidation in MEFs

abnormal mitochondrial physiology ( J:189886 )

• hyperpolarization of mitochondrial membranes in MEFs

abnormal redox activity ( J:189886 )

• MEFs produce more glutathione indicating an increase in reactive oxygen species production

• increase in lipid peroxidation in MEFs and mice

oxidative stress ( J:189886 )

• livers show increased 4-Hydroxy-2-nonenal staining and glutathione levels are increased in the blood indicating increased oxidative stress

homeostasis/metabolism

abnormal autophagy ( J:189886 )

• expression analysis indicates increased autophagy in MEFs and in the liver

abnormal blood homeostasis ( J:189886 )

• glutathione levels and malonaldehyde content are increased in the blood

liver/biliary system

abnormal liver physiology ( J:189886 )

• livers show increased 4-Hydroxy-2-nonenal staining indicating increased oxidative stress

• increased autophagy and mitophagy in the liver