Phenotypes associated with this allele
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sod1tm1Leb mutation
(2 available);
any
Sod1 mutation
(37 available)
|
|
|
hearing/vestibular/ear
|
• at 15 months, homozygotes display a significantly thinner stria vascularis in the apical turn relative to heterozygous or wild-type mice
• however, no differences in stria vascularis thickness are noted in the apical turn at 7-9 months
|
|
• at 12 and 15 months, homozygotes exhibit significantly increased ABR thresholds for clicks and tone pip stimuli at 8, 16 and 32 kHz relative to C57BL/6, wild-type or heterozygous mice; however, no differences are noted at 7-9 months
• at 12 months, homozygotes show an ~20 dB elevation in ABR thresholds at 32 kHz relative to C57BL/6 control mice; the latter have ABR thresholds that are ~10 dB higher than those in wild-type or heterozygous mice
|
|
• at 12 and 15 months, homozygotes exhibit an earlier and significantly greater hearing loss than age-matched C57BL/6, wild-type or heterozygous mice
|
nervous system
|
• number of cells in the retinal ganglion cell layer is reduced in 24 week old mutants but not at 8 weeks of age, indicating a progressive reduction
• however, photoreceptor cell death is not seen at 24 weeks of age
|
|
• starting at 7-9 months, homozygotes display severe progressive degeneration of spiral ganglion cells in all cochlear turns
• in homozygotes, the magnitude of ganglion cell loss is greater than that of C57BL/6 control mice, esp. above the basal turn
|
vision/eye
|
• level of reactive oxygen species (ROS) in the retinal ganglion cell layer is higher in 24-week old mutants than in wild-type mice
|
|
• number of cells in the retinal ganglion cell layer is reduced in 24 week old mutants but not at 8 weeks of age, indicating a progressive reduction
• however, photoreceptor cell death is not seen at 24 weeks of age
|
|
• 24 week old mutants exhibit thinning of the nerve fiber layer
|
|
• the amplitude of pattern electroretinogram (ERG) is reduced in 24 week old mutants, although dark-adapted and cone ERGs show no impairment, indicating impaired function of retinal ganglion cells
• however, the intraocular pressure is normal
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sod1tm1Leb mutation
(2 available);
any
Sod1 mutation
(37 available)
|
|
|
reproductive system
|
• at 12 weeks of age, increased stromal cell proliferation is noted in the center of the mutant ovary
|
|
• while normal-appearing primary follicles and some small antral follicles are present, only a few large antral follicles and corpora lutea are observed
|
|
• at 6-12 weeks of age, female homozygotes show limited follicular development beyond the early antral follicle stage
|
|
• homozygous mutant ovaries are often smaller than wild-type ovaries
|
|
• 5 of 16 female homozygotes failed to become pregnant over a 2-6 month period
|
|
• female homozygotes survive to adulthood and appear to show normal sexual differentiation but are subfertile
• whereas breeding of 5 female heterozygotes with male heterozygotes over a 6 month period produced an average of 1.0 litter/month, only 11 of 16 female homozygotes became pregnant over a 2-6 month period averaging 0.23 litters/month
• however, mutant and control females were shown to produce a similar number of eggs upon pharmacological superovulation
• in contrast to females, male homozygotes are fertile with normal testicular morphology
|
|
• over a 2-6 month period, female homozygotes produced a significantly decreased average litter size relative to female heterozygotes (2.7 vs 8.6 offspring/litter, respectively)
|
endocrine/exocrine glands
|
• increase in periglandular fibrosis from 10 to 50 weeks of age
|
|
• decrease in meibomian gland glandular acinar density from 10 to 50 weeks of age
• accumulation of large lipid droplets in the acinar units of meibomian glands of 50 weeks of age; lipid droplets become larger in size and increase in number from 10 to 50 weeks of age
|
|
• at 12 weeks of age, increased stromal cell proliferation is noted in the center of the mutant ovary
|
|
• while normal-appearing primary follicles and some small antral follicles are present, only a few large antral follicles and corpora lutea are observed
|
|
• at 6-12 weeks of age, female homozygotes show limited follicular development beyond the early antral follicle stage
|
|
• homozygous mutant ovaries are often smaller than wild-type ovaries
|
|
• increase in apoptosis within the meibomian glands at 50 weeks of age
|
|
• increase in periglandular inflammatory infiltrates from 10 to 50 weeks of age
|
homeostasis/metabolism
cellular
|
• mitochondrial swelling, disorientation, shortening, and disorganization of cristae are seen in 80% of 50 week old mice compared to 40% of wild-type mice at this age
|
|
• mice exhibit changes in oxidative stress markers in the meibomian glands
|
immune system
|
• increase in the mean serum IL-6 concentration from 10 to 50 weeks of age
|
|
• increase in serum TNF-alpha levels from 10 weeks of age
|
|
• increase in tear IL-6 concentration from 10 to 50 weeks of age
|
|
• increase in mean tear TNF-alpha concentration from 10 to 50 weeks of age
|
|
• eyelid inflammation
• mice exhibit changes in tear, serum and eye lid tissue inflammatory markers
|
|
• increase in periglandular inflammatory infiltrates from 10 to 50 weeks of age
|
integument
|
• increase in periglandular fibrosis from 10 to 50 weeks of age
|
|
• decrease in meibomian gland glandular acinar density from 10 to 50 weeks of age
• accumulation of large lipid droplets in the acinar units of meibomian glands of 50 weeks of age; lipid droplets become larger in size and increase in number from 10 to 50 weeks of age
|
|
• increase in apoptosis within the meibomian glands at 50 weeks of age
|
|
• increase in periglandular inflammatory infiltrates from 10 to 50 weeks of age
|
vision/eye
|
• increase in periglandular fibrosis from 10 to 50 weeks of age
|
|
• decrease in meibomian gland glandular acinar density from 10 to 50 weeks of age
• accumulation of large lipid droplets in the acinar units of meibomian glands of 50 weeks of age; lipid droplets become larger in size and increase in number from 10 to 50 weeks of age
|
|
• eyelid inflammation
• mice exhibit changes in tear, serum and eye lid tissue inflammatory markers
|
|
• increase in periglandular inflammatory infiltrates from 10 to 50 weeks of age
|
|
• mean corneal vital staining score is worse at 10 and 50 weeks of age indicating ocular surface epithelial cell damage
|
|
• lower tear break up time is seen at 50 weeks of age compared to wild-type mice indicating decreased tear stability
|
|
• mean weight adjusted aqueous tear production is lower at 10 and 50 weeks of age and mice show a significant decrease in tear quantity from 10 to 50 weeks of age
|
Allelic Composition |
Sod1tm1Leb/Sod1tm1Leb
|
|
Genetic Background |
involves: 129S7/SvEvBrd-Hprtb-m2 * C57BL/6 |
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sod1tm1Leb mutation
(2 available);
any
Sod1 mutation
(37 available)
|
|
|
vision/eye
|
• progressive age-related thinning from age 30 weeks
|
|
• swollen nuclei, vacuolized cytoplasm and disrupted plasma and nuclear membranes in 15-month-old senescent mice
|
|
• progressive age-related thinning from age 30 weeks
|
|
• decreased density, swollen cell bodies and damaged mitochondria in 15-month-old senescent mice
|
|
• with scotopic and photopic ERG at age 42 and 81 weeks
|
|
• with scotopic and photopic ERG at age 42 and 81 weeks
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sod1tm1Leb mutation
(2 available);
any
Sod1 mutation
(37 available)
|
|
|
nervous system
|
• contrary to previous findings, heterozygotes display no significant differences in ABR thresholds relative to wild-type mice at any age or any frequency tested
• no degenerative changes are noted in the heterozygous stria vascularis even at 18 months of age
• however, unlike wild-type mice, aging heterozygotes show a decrease in ganglion cell density at 15 months
|