Phenotypes Associated with This Genotype

Genotype
MGI:5897423

• Allelic Composition: Sptssb^Tvrm122/Sptssb^Tvrm122
• Genetic Background: involves: A * C57BL/6

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

mortality/aging

premature death ( J:224971 )

• mice die around 10 weeks after birth

nervous system

abnormal cerebellum white matter morphology ( J:224971 )

• abnormal neurofilament H accumulation as early as 2 weeks after birth

• however, there is no cell death or degeneration of cerebellar neuronal somas

brain vacuoles ( J:224971 )

• abnormal vacuolar structures in deep cerebellar nuclei, brainstem (pons and medulla), midbrain, pontine nuclei, thalamus, and isolated areas in hypothalamus, as early as 1-2 week after birth

optic nerve degeneration ( J:224971 )

• abnormal neurofilament H accumulation

axon degeneration ( J:224971 )

• in the optic nerve

vision/eye

optic nerve degeneration ( J:224971 )

• abnormal neurofilament H accumulation

abnormal ocular fundus morphology ( J:224971 )

• shiny flecks

abnormal retina inner plexiform layer morphology ( J:224971 )

• hyperreflective areas and abnormal vacuolar structures

abnormal retina outer plexiform layer morphology ( J:224971 )

• hyperreflective areas and abnormal vacuolar structures

behavior/neurological

ataxia ( J:224971 )

• early onset

growth/size/body

decreased body weight ( J:224971 )

homeostasis/metabolism

abnormal lipid homeostasis ( J:224971 )

• elevated C20 sphingoid long chain base biosynthesis

cellular

abnormal endoplasmic reticulum stress ( J:224971 )

• abnormal membrane structures and accumulation of ubiquitinated proteins