behavior/neurological phenotype

• abnormal mechanical nociception
  • increased threshold at 4 to 6 weeks
  (MGI Ref ID J:203043)

• impaired coordination
  • on a rotarod at 10 to 12 weeks
  (MGI Ref ID J:203043)

mortality/aging

• premature death
  • Background Sensitivity - mice on a congenic BALB/c background die by 50 weeks unlike mice on a pseudocongenic C57BL/6J background which die at or before birth
  (MGI Ref ID J:203043)

muscle phenotype

• muscle weakness
  (MGI Ref ID J:203043)

nervous system phenotype

• abnormal neuromuscular synapse morphology
  • large accumulations of neurofilaments at the nerve terminals at 10 to 12 weeks
  (MGI Ref ID J:203043)

• abnormal nervous system physiology
  • mice exhibit normal Purkinje cell axon morphology and paired pulse facilitation
  (MGI Ref ID J:203043)

growth/size/body region phenotype

• decreased body size
  • Normal - however, mice continue to gain weight over time
  (MGI Ref ID J:203043)
  • by 4 weeks
  (MGI Ref ID J:203043)

• decreased body weight
  • Normal - however, mice continue to gain weight over time
  (MGI Ref ID J:203043)

integument phenotype

• abnormal mechanical nociception
  • increased threshold at 4 to 6 weeks
  (MGI Ref ID J:203043)

mammalian phenotype

• muscle phenotype
  • Normal - mice exhibit normal cross-sectional muscle fiber area
  (MGI Ref ID J:203043)

• behavior/neurological phenotype
  • Normal - unlike Usp14^ax-J homozygotes, mice exhibit normal baseline locomotion
  (MGI Ref ID J:203043)

• nervous system phenotype
  • Normal - mice exhibit normal Purkinje cell axon morphology and paired pulse facilitation
  (MGI Ref ID J:203043)

behavior/neurological phenotype

• limb grasping
  • when lifted by the tail, a mutant mouse keeps its hindlimbs together
  (MGI Ref ID J:87349)

• paraparesis
  • homozygous mice exhibit weakness of the hindlimbs, which lag behind during locomotion
  (MGI Ref ID J:87349)

growth/size/body region phenotype

• decreased body size
  • homozygous mutant mice are smaller than unaffected littermates
  (MGI Ref ID J:87349)

muscle phenotype

• muscle spasm
  • intermittent spasms of the hindlimbs that may either extend or contract the limb; some mutant mice also experience intermittent spasms of the forelimbs
  (MGI Ref ID J:87349)

• muscle degeneration
  • some mutant mice exhibit apparent wasting of the hindquarters
  (MGI Ref ID J:87349)

nervous system phenotype

• axonal dystrophy
  • histologic analysis of the brains and spinal cords of four mutant mice aged 40, 80, 86 and 113 days revealed dystrophic axons in the spinal cord of the youngest mouse and degeneration of the white matter of the spinal cord of the oldest mouse
  (MGI Ref ID J:87349)
  • histologic analysis of the brains and spinal cords of four mutants aged 40, 80, 86 and 113 days revealed axonal dystrophy in the brainstem of the oldest mouse
  (MGI Ref ID J:87349)

• abnormal brainstem morphology
  • histologic analysis of the brains and spinal cords of four mutants aged 40, 80, 86 and 113 days revealed axonal dystrophy in the brainstem of the oldest mouse
  (MGI Ref ID J:87349)

• abnormal spinal cord morphology
  • histologic analysis of the brains and spinal cords of four mutant mice aged 40, 80, 86 and 113 days revealed dystrophic axons in the spinal cord of the youngest mouse and degeneration of the white matter of the spinal cord of the oldest mouse
  (MGI Ref ID J:87349)