Phenotypes Associated with This Genotype

Genotype
MGI:3640086

• Allelic Composition: Sil1^wz/Sil1^wz
• Genetic Background: CXB5/ByJ-Sil1^wz

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

mortality/aging

perinatal lethality ( J:100860 )

behavior/neurological

ataxia ( J:100860 )

• develop adult-onset ataxia

nervous system

abnormal Purkinje cell morphology ( J:100860 )

• degenerating Purkinje cells have condensed nuclear chromatin, multilamellar membranous structures with characteristics of autophagosomes or autophagic vacuoles, and intracellular protein accumulations in the ER and nucleus

Purkinje cell degeneration ( J:100860 )

• most Purkinje cells in cerebellar lobules degenerate by 4 months of age, however cells in lobule X and caudal lobule IX are present in mice at 1 year of age

• Purkinje cells exhibit upregulation of the unfolded protein response, suggestive of ER stress