behavior/neurological phenotype

• tremors
  (MGI Ref ID J:206791)

• abnormal gait
  (MGI Ref ID J:206791)

• abnormal locomotor coordination
  • heterozygotes develop a whole body tremor that is visible when still, and a wobbly, increasingly labored gait, and the posture becomes lower to the ground with movement that seems cautious
  (MGI Ref ID J:206791)

• ataxia
  (MGI Ref ID J:206791)

growth/size/body region phenotype

• cachexia
  • Background Sensitivity - on the C57BL/6J background heterozygotes begin to become thinner than littermate controls as early as 4 weeks of age, the ataxia and cachexia progress rapidly and all are dead with severe wasting by 8 weeks of age
  (MGI Ref ID J:206791)

mammalian phenotype

• vision/eye phenotype
  • Normal - ophthalmoscopic examination of 2 heterozgyotes at 7 weeks of age found not abnormalities and electroretinography on 3 heterozygotes at 7 weeks of age and 2 heterozygotes at 6 weeks of age found no abnormalities
  (MGI Ref ID J:206791)

• hearing/vestibular/ear phenotype
  • Normal - ABR testing of one heterozygote at 39 days of age and one heterozygote at 7 weeks of age showed normal hearing
  (MGI Ref ID J:206791)

mortality/aging

• premature death
  • Background Sensitivity - on the C57BL/6J background all heterozygotes die by 8 weeks of age
  (MGI Ref ID J:206791)