Phenotypes Associated with This Genotype

Genotype
MGI:3639896

• Allelic Composition: Sod2^tm1Cje/Sod2^tm1Cje
• Genetic Background: involves: C57BL/6J * DBA/2J

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

mortality/aging

postnatal lethality, complete penetrance ( J:73998 )

• mean life span is 15.7 +/- 0.5 days

• Background Sensitivity: mean life span is longer than on a congenic C57BL/6J or DBA/2J background

cardiovascular system

increased heart weight ( J:73998 )

• heart weight to body weight ratios are progressively increased with age and show mild hypertrophy but no myocardial inflammation or fibrosis

• Background Sensitivity: no dilated cardiomyopathy is seen unlike mice on a congenic C57BL/6J or CD-1 background

cardiac hypertrophy ( J:73998 )

• mild

homeostasis/metabolism

abnormal blood homeostasis ( J:73998 )

abnormal blood pH regulation ( J:73998 )

• Background Sensitivity: a steady mild decline in HCO3 levels is seen resulting in maintenance of blood pH in the normal range through P15, unlike the rapid decline seen in mice on a congenic DBA2/J background

increased blood urea nitrogen level ( J:73998 )

• Background Sensitivity: seen later in hybrid mice than in mice on a congenic DBA/2J background

decreased circulating glucose level ( J:73998 )

• Background Sensitivity: seen later in hybrid mice than in mice on a congenic DBA/2J background

increased circulating ketone body level ( J:73998 )

• Background Sensitivity: lower than in homozygotes on a congenic DBA/2J background

abnormal enzyme/coenzyme level ( J:73998 )

• Background Sensitivity: at P5, brain, heart, lung, and liver levels of SOD1 activity are increased unlike mice on a congenic DBA/2J background where SOD1 activity is increased only in the heart

hypocapnia ( J:73998 )

• a 40% decrease in pCO2 is seen

• Background Sensitivity: decrease is larger than in mice on a congenic DBA/2J background

hyperoxia ( J:73998 )

• a 55% increase in pO2 is seen

• Background Sensitivity: increase is larger than in mice on a congenic DBA/2J background

acidosis ( J:73998 )

• Background Sensitivity: milder than in mice on a congenic DBA/2J background

abnormal urine homeostasis ( J:73998 )

• at P10 and P15 urinary organic acid levels are elevated but no evidence of lactic acidosis is seen at P15

liver/biliary system

liver/biliary system phenotype ( J:73998 )

N • Background Sensitivity: do not accumulate large amounts of lipid in the liver unlike mice on a congenic DBA/2J background

cellular

abnormal tricarboxylic acid cycle ( J:73998 , J:98007 )

• mitochondrial but not cytoplasmic aconitase activity is reduced in the brain, heart, lung, liver, kidney, and skeletal muscle (J:73998)

• mitochondrial aconitase activities are reduced by 72%, 61%,60%, and 62% in the cortex, thalamus, hippocampus, and brainstem, respectively (J:98007)

behavior/neurological

tremors ( J:98007 )

• visible tremors at P11

ataxia ( J:73998 , J:98007 )

• progressive ataxia with age (J:73998)

• at P11 unsteady movement are seen progressing rapidly to truncal instability (J:98007)

abnormal gait ( J:98007 )

• tendency to push or walk backward

seizures ( J:73998 , J:98007 )

• frequent seizures are seen in older mice (J:73998)

• by P14, frequent spontaneous seizures are seen (J:98007)

renal/urinary system

abnormal urine homeostasis ( J:73998 )

• at P10 and P15 urinary organic acid levels are elevated but no evidence of lactic acidosis is seen at P15

nervous system

seizures ( J:73998 , J:98007 )

• frequent seizures are seen in older mice (J:73998)

• by P14, frequent spontaneous seizures are seen (J:98007)

abnormal brain morphology ( J:98007 )

abnormal brainstem morphology ( J:98007 )

• vacuolar degeneration is seen in discrete regions

abnormal trigeminal V mesencephalic nucleus morphology ( J:98007 )

• degenerative changes are detected by P11-13

abnormal trigeminal motor nucleus morphology ( J:98007 )

• degenerative changes are detected by P11-13

abnormal forebrain morphology ( J:98007 )

abnormal thalamus morphology ( J:98007 )

• vacuolar degeneration is seen in discrete regions

abnormal hippocampus morphology ( J:98007 )

• vacuolar degeneration is seen in discrete regions

abnormal frontal lobe morphology ( J:98007 )

• vacuolar degeneration is seen in deep layers of the motor cortex by P11-13

neuron degeneration ( J:98007 )

• in regions of vacuolar degeneration, enlarged and degenerating mitochondria are found in the neurons and axons and the thickness of the myelin sheaths are reduced

• degeneration is first seen around P11-13 and becomes more extensive by P15

axon degeneration ( J:98007 )

• in regions of vacuolar degeneration, enlarged and degenerating mitochondria are found in the neurons and axons and the thickness of the myelin sheaths are reduced

muscle

abnormal skeletal muscle fiber morphology ( J:98007 )

• proliferation of mitochondria located in clusters near the sarcolemmal membrane

decreased skeletal muscle fiber size ( J:98007 )

growth/size/body

increased heart weight ( J:73998 )

• heart weight to body weight ratios are progressively increased with age and show mild hypertrophy but no myocardial inflammation or fibrosis

• Background Sensitivity: no dilated cardiomyopathy is seen unlike mice on a congenic C57BL/6J or CD-1 background

cardiac hypertrophy ( J:73998 )

• mild

decreased body weight ( J:73998 )