behavior/neurological phenotype

• tremors
  • generally found by 2 weeks of age
  (MGI Ref ID J:199990)

• ataxia
  • beginning after 2 weeks of age and progressing to paralysis
  (MGI Ref ID J:199990)

• paralysis
  • although no demyelination was evident in nerve cross-sections and conduction velocities were normal at 16 days of age, homozygotes display tremors, ataxia, and progressive paralysis until death by 21 to 24 days of age
  (MGI Ref ID J:199990)

growth/size/body region phenotype

• decreased body size
  • generally evident by 2 weeks of age
  (MGI Ref ID J:199990)

mortality/aging

• postnatal lethality, complete penetrance
  • homozygotes die between 21 and 24 days of age
  (MGI Ref ID J:199990)

nervous system phenotype

• decreased nerve conduction velocity
  • heterozgyotes have a modest reduction in nerve conduction velocity
  (MGI Ref ID J:240096)