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Phenotypes Associated with This Genotype
Genotype
MGI:3580497
Allelic
Composition
Sod2tm1Leb/Sod2tm1Leb
Genetic
Background
B6.129S7-Sod2tm1Leb/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sod2tm1Leb mutation (2 available); any Sod2 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Histological abnormalities in Sod2tm1Leb/Sod2tm1Leb mice

mortality/aging
• homozygotes survive for up to 3 weeks of age
• mutants with the slowest growth rates (4 of 8) usually die during the first postnatal week
• mutants with intermediate growth rates die within the second or third week

growth/size/body
• at P10, homozygotes are significantly smaller than wild-type littermates
• however, no skeletal abnormalities are observed and failure to thrive is unrelated to nursing difficulties
• reduction of postnatal growth rate is variable among mice, first evident between P2 and P7, and progressive until death by P18

behavior/neurological
• homozygotes display striking and progressive motor deficits
• homozygotes exhibit progressive limb weakness, as shown by impaired ability to hold onto a bar suspended above the cage for at least 5 sec without falling or scale a 60 degree incline
• homozygotes display earlier onset of fatigue, as shown by reduced endurance only after 2-3 cycles of immersion into a small room-temperature water bath (vs 10 cycles in wild-type mice)

hematopoietic system
• within the bone marrow, all hematopoietic lineages appear to be reduced
• homozygotes are severely anemic at the time of death
• homozygotes display a hypocellular bone marrow

nervous system
• homozygotes display degeneration of large CNS neurons, esp. in the basal ganglia and brainstem
• neurodegeneration is associated with extensive mitochondrial damage, loss of polysomes, clearing of the cytoplasm, a relative absence of rough ER, focal dilation of smooth ER, and ruffling of nuclear membranes
• in P10 basal ganglia, early cellular degeneration includes dispersion of cytoplasm, shedding of ribosomes, and balloning of mitochondria
• in affected brain and brainstem regions, occasional swollen neurites are observed; however, most structures and mitochondria remain intact

cellular
• at >P7, homozygotes show extensive mitochondrial injury in affected cardiac muscle cells and degenerating neurons

adipose tissue
• homozygotes display a significant reduction in adipose tissue mass

muscle
• only 10% of homozygotes display extreme baloon-like cardiac dilatation with thinning of the ventricular wall
• affected myocytes exhibit widespread cellular injury and death associated with mitochondrial injury (swelling and fragmentation) and lipid peroxidation of mitochondrial membranes in severely affected resgions
• homozygotes display a significant reduction in skeletal muscle mass

immune system
• within the bone marrow, all hematopoietic lineages appear to be reduced

liver/biliary system
• hepatic glycogen deposits appear coarsely granular and with a tendency towards centrilobular accumulation
• in addition, an abundance of intracellular lipid vacuoles is observed

cardiovascular system
• homozygotes with extreme baloon-like cardiac dilatation (10%) display thinning of the ventricular wall
• only 10% of homozygotes display extreme baloon-like cardiac dilatation with thinning of the ventricular wall
• affected myocytes exhibit widespread cellular injury and death associated with mitochondrial injury (swelling and fragmentation) and lipid peroxidation of mitochondrial membranes in severely affected resgions

homeostasis/metabolism
• homozygotes display an abundance of intracellular lipid vacuoles in hepatocytes
• homozygotes with extreme cardiac dilatation exhibit lipid peroxidation of mitochondrial membranes in affected myocytes
• homozygotes without extreme cardiac dilatation show increased accumulation of neutral lipid in myocytes but no mitochondrial injury

reproductive system
N
• ovaries from female homozygotes (4-10 days of age), transplanted to the bursa of wild-type hosts, display all stages of folliculogenesis including corpora lutea and give rise to viable offspring, suggesting normal ovarian function

integument
• homozygotes appear slightly pale


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/18/2025
MGI 6.24
The Jackson Laboratory