Phenotypes Associated with This Genotype

Genotype
MGI:3652533

• Allelic Composition: Aars1^sti/Aars1^sti
• Genetic Background: B6.Cg-Aars1^sti/J

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

Aars1^sti/ Aars1^sti

nervous system

nervous system phenotype ( J:220153 )

N • No changes in microtubule levels are found in Purkinje cells

Purkinje cell degeneration ( J:110647 )

• loss of cells beginning at three weeks of age

• extensive cell loss by six weeks of age especially in rostral cerebellum

behavior/neurological

tremors ( J:110647 )

• mild tremors occur at 6 weeks of age and progress to ataxia

ataxia ( J:110647 )

• progressive ataxia

impaired balance ( J:110647 )

• as demonstrated by rotorod

integument

focal hair loss ( J:110647 )

• patchy hair loss occurs over time

disheveled coat ( J:110647 )

• fur has rough, unkempt, sticky appearance

• electron microscopy indicates short, broken, deformed hair fibers

abnormal hair shaft morphology ( J:110647 )

• hair fibers break at follicular ostium and have cuff of compacted inner root sheath cells

hair follicle outer root sheath hyperplasia ( J:110647 )

• hyperplasia of outer root sheath

hair follicle degeneration ( J:110647 )

• hair fibers twisted within the follicle