Phenotypes Associated with This Genotype

Genotype
MGI:3580495

• Allelic Composition: Sod1^tm1Leb/Sod1^tm1Leb
• Genetic Background: B6;129S-Sod1^tm1Leb/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

hearing/vestibular/ear

thin stria vascularis ( J:102419 )

• 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

increased or absent threshold for auditory brainstem response ( J:102419 )

• 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

deafness ( J:102419 )

• 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

decreased retina ganglion cell number ( J:181434 )

• 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

cochlear ganglion degeneration ( J:102419 )

• 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

abnormal retina ganglion layer morphology ( J:181434 )

• level of reactive oxygen species (ROS) in the retinal ganglion cell layer is higher in 24-week old mutants than in wild-type mice

decreased retina ganglion cell number ( J:181434 )

• 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

abnormal retina nerve fiber layer morphology ( J:181434 )

• 24 week old mutants exhibit thinning of the nerve fiber layer

abnormal eye electrophysiology ( J:181434 )

• 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		DO ID	OMIM ID(s)	Ref(s)
low tension glaucoma		DOID:13544		J:181434