Phenotypes Associated with This Genotype

Genotype
MGI:4417864

• Allelic Composition: Hyou1^tm1Oga/Hyou1⁺; Sil1^{Gt(RST462)Byg}/Sil1^{Gt(RST462)Byg}
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6J

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

nervous system

abnormal Purkinje cell morphology ( J:154993 )

• at 6 to 8 weeks, Purkinje cells accumulate ubiquitin+ inclusions, a marker of endoplasmic reticulum stress

Purkinje cell degeneration ( J:154993 )

• at 4 and 6 weeks, Purkinje cells exhibit degeneration

• by 20 weeks most Purkinje cells have degenerated

• unlike Sil1^{Gt(RST462)Byg} homozygotes, Purkinje cells in lobule X and caudal lobule IX degenerate by 3 months of age

behavior/neurological

ataxia ( J:154993 )

• beginning at 2 months and extreme by 20 weeks

abnormal posture ( J:154993 )

• at 10 weeks, mice exhibit a wide stance compared with wild-type mice