Phenotypes associated with this allele

• Allele Symbol: mt-Co1^m1Jiha
• Allele Name: mutation 1, Jun-Ichi Hayashi
• Allele ID: MGI:3777237
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	mt-Co1^m1Jiha mt-Nd6^m1Dwa mt-Nd6^m2Dwa	involves: C3H/An * C57BL/6J * M. m. domesticus	MGI:3810062
ot2	mt-Co1^m1Jiha	B6.Cg-mt-Co1^m1Jiha	MGI:3809972
ot3	mt-Co1^m1Jiha	involves: C57BL/6J * M. m. domesticus	MGI:3810060

Genotype
MGI:3810062

cx1

• Allelic Composition: mt-Co1^m1Jiha; mt-Nd6^m1Dwa; mt-Nd6^m2Dwa
• Genetic Background: involves: C3H/An * C57BL/6J * M. m. domesticus

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

cellular

abnormal mitochondrial ATP synthesis coupled electron transport ( J:132659 )

• mice with 14% mitochondria containing mt-Nd6^m1Dwa and 86% mitochondria containing mt-Nd6^m2Dwa in addition to all mitochondria containing mt-Co1^m1Jiha exhibit reduced complex IV activity compared to in wild-type mice

cardiovascular system

abnormal myocardial fiber physiology ( J:132659 )

• mice with 14% mitochondria containing mt-Nd6^m1Dwa and 86% mitochondria containing mt-Nd6^m2Dwa in addition to all mitochondria containing mt-Co1^m1Jiha exhibit mitochondrial proliferation, mitochondrial autophagy and myofibrillar degeneration unlike in wild-type mice

• however, the percentage of mitochondria with Nd6^m1Dwa did not alter the phenotype

Genotype
MGI:3809972

ot2

• Allelic Composition: mt-Co1^m1Jiha
• Genetic Background: B6.Cg-mt-Co1^m1Jiha

growth/size/body

decreased body weight ( J:132960 )

postnatal growth retardation ( J:132960 )

cardiovascular system

abnormal myocardial fiber physiology ( J:132960 )

• mice exhibit reduced COX activity in cardiac cells compared to in wild-type mice

homeostasis/metabolism

increased circulating lactate level ( J:132960 )

• mice exhibit an increase in lactate in the blood compared to in wild-type mice

cellular

abnormal mitochondrial ATP synthesis coupled electron transport ( J:132960 )

• mice exhibit reduced cytochrome c oxidase activity in cardiac cells compared to in wild-type mice

Genotype
MGI:3810060

ot3

• Allelic Composition: mt-Co1^m1Jiha
• Genetic Background: involves: C57BL/6J * M. m. domesticus

cardiovascular system

abnormal blood vessel morphology ( J:132659 )

• mice exhibit increased blood vessel number and diameter in the heart compared to in wild-type mice

abnormal heart morphology ( J:132659 )

• heart tissue exhibits mitochondrial proliferation, reduced mitochondrial matrix density and cristolysis unlike in wild-type mice

abnormal myocardial fiber morphology ( J:132659 )

• mice exhibit myocyte hypertrophy, myofibrillar lysis, binucleated cells and interstitial fibrosis

• however, no evidence of myofiber disarray is observed

myocardial fiber degeneration ( J:132659 )

• myofibrillar lysis

abnormal heart left ventricle morphology ( J:132659 )

• left ventricular wall thickness is increased 5% compared to in wild-type mice

cardiac interstitial fibrosis ( J:132659 )

abnormal heart ventricle pressure ( J:132659 )

• mice exhibit a 23% reduction in left ventricular inner dimension at end-diastole compared to in wild-type mice

cardiomyopathy ( J:132659 )

• all mice develop cardiomyopathy associated with 5% increase in left ventricular wall thickness, a 23% reduction in left ventricular inner dimension at end-diastole, and a 27% increase in rotation in association with a 28% reduction in circumferential strain vectors and a 42% reduction in radial stretch vectors

• however, no evidence of myofiber disarray is observed

heart inflammation ( J:132659 )

• mice exhibit focal inflammation in the heart

homeostasis/metabolism

edema ( J:132659 )

• mice exhibit interstitial edema in the heart

immune system

heart inflammation ( J:132659 )

• mice exhibit focal inflammation in the heart

muscle

abnormal myocardial fiber morphology ( J:132659 )

• mice exhibit myocyte hypertrophy, myofibrillar lysis, binucleated cells and interstitial fibrosis

• however, no evidence of myofiber disarray is observed

myocardial fiber degeneration ( J:132659 )

• myofibrillar lysis

cardiomyopathy ( J:132659 )

• all mice develop cardiomyopathy associated with 5% increase in left ventricular wall thickness, a 23% reduction in left ventricular inner dimension at end-diastole, and a 27% increase in rotation in association with a 28% reduction in circumferential strain vectors and a 42% reduction in radial stretch vectors

• however, no evidence of myofiber disarray is observed

myopathy ( J:132659 )

• mice exhibit mitochondrial myopathy

cellular

cardiac interstitial fibrosis ( J:132659 )