Mouse Genome Informatics
hm
    Sod1tm1Leb/Sod1tm1Leb
B6;129S-Sod1tm1Leb/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
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

Mouse Models of Human Disease
OMIM IDRef(s)
Glaucoma, Normal Tension, Susceptibility to 606657 J:181434