Phenotypes Associated with This Genotype

Genotype
MGI:7579104

• Allelic Composition: Rreb1^Sao/Rreb1^Sao
• Genetic Background: NOD.Cg-Rreb1^Sao/Slac

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

behavior/neurological

tremors ( J:344350 )

ataxia ( J:344350 )

• mild ataxia and tremor begin at 4 weeks of age

nervous system

abnormal Purkinje cell morphology ( J:344350 )

• Purkinje cells have fewer lysosomes and autophagosomes and show accumulating protein inclusions

Purkinje cell degeneration ( J:344350 )

• homozygotes display apoptotic Purkinje cell degeneration beginning at 4 weeks of age, which progresses rostrally to caudally with an average of only 16% of Purkinje cells surviving at 1 year

decreased Purkinje cell number ( J:344350 )