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Phenotypes Associated with This Genotype
Genotype
MGI:3820405
Allelic
Composition
Sod1tm1Leb/Sod1tm1Leb
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sod1tm1Leb mutation (2 available); any Sod1 mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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
• adult female homozygotes exhibit suppressed serum FSH levels relative to control females (38.5 +/- 3.1 ng/ml vs 105.0 +/- 17.3 ng/ml, respectively), as shown by RIA analysis
• adult female homozygotes exhibit suppressed serum LH levels relative to control females (17.4 +/- 3.0 ng/ml vs 57.8 +/- 17.7 ng/ml, respectively), as shown by RIA analysis
• 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

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
• in 50 week old mice
• in 50 week old mice
• 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

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
dry eye syndrome DOID:10140 J:219024


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
04/16/2024
MGI 6.23
The Jackson Laboratory