Phenotypes Associated with This Genotype

Genotype
MGI:3639890

• Allelic Composition: Sod2^tm1Cje/Sod2^tm1Cje
• Genetic Background: involves: C57BL/6J * CD-1

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

mortality/aging

postnatal lethality, complete penetrance ( J:29899 )

• by 4 - 5 days after birth, 37.5% are dead and almost all die by 10 days of age

cellular

abnormal cell physiology ( J:52592 )

• an increase in oxidative DNA lesions is seen in cells from the heart and brain, but not in liver cells

abnormal aerobic respiration ( J:52592 )

• at 4 to 6 days of age, succinate dehydrogenase (complex II + III) activity is reduced to 35% and 24% of control in mitochondria from skeletal muscle and heart, respectively

• at 4 to 6 days of age, complex I and citrate synthase activity are reduced to 59% and 32% of control in heart

• liver mitochondria show a 36% decrease in 3-hydroxy-3-methylglutaryl-CoA lyase activity

abnormal tricarboxylic acid cycle ( J:52592 , J:29899 )

• at 9 to 10 days of age aconitase activity is reduced by 89% and 67-76% in the heart and various regions of the brain, respectively (J:52592)

• aconitase activity is reduced by about 43%, 37%, and 22% in the heart, liver, and brain, respectively; however at P4 - 5 mitochondrial morphology appears normal (J:29899)

cardiovascular system

cardiac hypertrophy ( J:29899 )

• ventricular

cardiac fibrosis ( J:29899 )

• endocardial fibrosis

dilated cardiomyopathy ( J:29899 )

• enlarged hearts with a dilated left ventricular, reduced left ventricular wall thickness, hypertrophy and endocardial fibrosis but no signs of heart failure are seen

liver/biliary system

increased liver weight ( J:29899 )

• weight is increased relative to body weight

hepatic steatosis ( J:29899 )

abnormal liver physiology ( J:29899 )

• slightly decreased glutamate oxaloacetate transaminase levels but normal glutamate pyruvate transaminase and bilirubin levels

behavior/neurological

fatigue ( J:29899 )

• fatigue rapidly after any exertion

homeostasis/metabolism

increased circulating ketone body level ( J:29899 )

decreased circulating lactate level ( J:29899 )

• lower serum lactate concentration

decreased body surface temperature ( J:29899 )

• neonates have surface temperatures that are 2.6 degrees C lower than controls

calcinosis ( J:29899 )

• calcification of the submucosal regions of the small intestine

metabolic acidosis ( J:29899 )

• compensated metabolic acidosis

organic aciduria ( J:52592 )

• at 9, 10, 14 and 15 days of age increased concentrations of organic acids are found in the urine

hematopoietic system

decreased hematocrit ( J:29899 )

• seen in neonates

muscle

dilated cardiomyopathy ( J:29899 )

• enlarged hearts with a dilated left ventricular, reduced left ventricular wall thickness, hypertrophy and endocardial fibrosis but no signs of heart failure are seen

abnormal skeletal muscle morphology ( J:29899 )

• lipid deposits

hypotonia ( J:29899 )

• seen in neonates

growth/size/body

cardiac hypertrophy ( J:29899 )

• ventricular

postnatal growth retardation ( J:29899 )

• mice that survive to 4 - 5 days of age are severely growth retarded

increased liver weight ( J:29899 )

• weight is increased relative to body weight

renal/urinary system

organic aciduria ( J:52592 )

• at 9, 10, 14 and 15 days of age increased concentrations of organic acids are found in the urine

integument

pallor ( J:29899 )