About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Sod2tm1Leb
targeted mutation 1, Russell M Lebovitz
MGI:1857480
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Sod2tm1Leb/Sod2tm1Leb B6.129S7-Sod2tm1Leb/J MGI:3580497
ht2
Sod2tm1Leb/Sod2+ B6.129S7-Sod2tm1Leb/J MGI:3580498


Genotype
MGI:3580497
hm1
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 (24 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




Genotype
MGI:3580498
ht2
Allelic
Composition
Sod2tm1Leb/Sod2+
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 (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
N
• aging heterozygotes exhibit no significant increase in the amount of age-related hearing loss relative to C57BL/6 control mice, with many animals over the age of 20 months being deaf or displaying ABR thresholds >80 dB SPL
• contrary to expectation, ABR thresholds are only 12 dB higher in heterozygotes relative to C57BL/6 control mice (at various age groups including 6-9, 12, 15, 18-21 and 24 months and stimuli including click, 8, 16 and 32 kHz); no explanation for the relatively good hearing of three 24-month-old heterozygotes is provided





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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/19/2024
MGI 6.23
The Jackson Laboratory