Phenotypes Associated with This Genotype

Genotype
MGI:5445201

• Allelic Composition: Mfn2^tm1.1Mzhe/Mfn2^tm1.1Mzhe; Myl2^tm1(cre)Krc/Myl2⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

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

Autophagosome accumulation in Mfn2^tm1.1Mzhe/Mfn2^tm1.1Mzhe Myl2^tm1(cre)Krc/Myl2⁺ hearts

cardiovascular system

abnormal myocardial fiber morphology ( J:188865 )

• cardiomyocytes contain large numbers of double and multimembrane autophagosome-like vacuolar structures and increased autophagic activity compared with cells from control mice

• cardiomyocytes exhibit impaired autophagosome-lysosome fusion compared with cells from control mice

• cardiomyocytes exhibit endoplasmic reticulum stress unlike cells from control mice

• however, cardiomyocytes exhibit normal mitochondrial mass and autophagosome formation

abnormal myocardial fiber mitochondrial morphology ( J:188865 )

• cardiomyocytes exhibit increased numbers of large mitochondria and average size of mitochondrial area compared with control mice

• however, mitochondrial mass is normal

decreased heart ventricle muscle contractility ( J:188865 )

• beginning at 17 months of age

abnormal myocardial fiber physiology ( J:188865 )

• following ischemia-reperfusion stress, cardiomyocytes from 6 month old mice exhibit a greater loss of mitochondrial membrane potential compared with cells from control mice

• however, mitochondrial membrane potential is normal at 4 months following ischemia-reperfusion stress

increased myocardial fiber apoptosis ( J:188865 )

• at 12 months following ischemia-reperfusion stress

increased response of heart to induced stress ( J:188865 )

• following ischemia-reperfusion stress, cardiomyocytes from 6 month old mice exhibit a greater loss of mitochondrial membrane potential compared with cells from control mice

• worse at 12 months of age with increased cardiomyocytes apoptosis

• however, mitochondrial membrane potential is normal at 4 months following ischemia-reperfusion stress

cellular

abnormal myocardial fiber mitochondrial morphology ( J:188865 )

• cardiomyocytes exhibit increased numbers of large mitochondria and average size of mitochondrial area compared with control mice

• however, mitochondrial mass is normal

increased myocardial fiber apoptosis ( J:188865 )

• at 12 months following ischemia-reperfusion stress

abnormal autophagy ( J:188865 )

• cardiomyocytes contain large numbers of double and multi-membrane autophagosome-like vacuolar structures and increased autophagic activity compared with cells from control mice

• cardiomyocytes exhibit impaired autophagosome-lysosome fusion compared with cells from control mice

• however, autophagosome formation is normal

abnormal cellular respiration ( J:188865 )

• decreased respiratory control ration in the cardiomyocytes

pigmentation

lipofuscinosis ( J:188865 )

• in the heart

muscle

abnormal myocardial fiber morphology ( J:188865 )

• cardiomyocytes contain large numbers of double and multimembrane autophagosome-like vacuolar structures and increased autophagic activity compared with cells from control mice

• cardiomyocytes exhibit impaired autophagosome-lysosome fusion compared with cells from control mice

• cardiomyocytes exhibit endoplasmic reticulum stress unlike cells from control mice

• however, cardiomyocytes exhibit normal mitochondrial mass and autophagosome formation

abnormal myocardial fiber mitochondrial morphology ( J:188865 )

• cardiomyocytes exhibit increased numbers of large mitochondria and average size of mitochondrial area compared with control mice

• however, mitochondrial mass is normal

decreased heart ventricle muscle contractility ( J:188865 )

• beginning at 17 months of age

increased myocardial fiber apoptosis ( J:188865 )

• at 12 months following ischemia-reperfusion stress

homeostasis/metabolism

increased response of heart to induced stress ( J:188865 )

• following ischemia-reperfusion stress, cardiomyocytes from 6 month old mice exhibit a greater loss of mitochondrial membrane potential compared with cells from control mice

• worse at 12 months of age with increased cardiomyocytes apoptosis

• however, mitochondrial membrane potential is normal at 4 months following ischemia-reperfusion stress

abnormal autophagy ( J:188865 )

• cardiomyocytes contain large numbers of double and multi-membrane autophagosome-like vacuolar structures and increased autophagic activity compared with cells from control mice

• cardiomyocytes exhibit impaired autophagosome-lysosome fusion compared with cells from control mice

• however, autophagosome formation is normal