mortality/aging

• neonatal lethality, complete penetrance
  • mice die within the first 24 hours of birth but no embryonic lethality is observed as previously noted
  (MGI Ref ID J:125313)

nervous system phenotype

• abnormal brain development
  • the pontine nuclei is disrupted
  (MGI Ref ID J:125313)

behavior/neurological phenotype

• abnormal gait
  • dynamic weight bearing analysis indicates that mice place more weight on their front left paw than their right paw
  (MGI Ref ID J:239016)
  • mice favor their front left paw while ambulating across a catwalk
  (MGI Ref ID J:239016)

• impaired spatial learning
  • in the Morris water maze, mice fail to show selectivity for the target quadrant, spending less time there than wild-type mice and crossing the platform zone fewer times
  (MGI Ref ID J:239016)

• increased grooming behavior
  • mice groom themselves more than wild-type mice
  (MGI Ref ID J:239016)

• hyperactivity
  • mice show increased activity in the open field and in the elevated plus maze, where mice show an increase in overall arm entrances
  (MGI Ref ID J:239016)
  • Normal - however, mice do not show an increase in anxiety in the open field or elevated plus maze
  (MGI Ref ID J:239016)

• impaired contextual conditioning behavior
  • Normal - mice treated subchronically with suberoylanilide hydroxamic acid show rescue of memory-associated freezing in the contextual and cued tests
  (MGI Ref ID J:239016)
  • mice show reduced freezing in the contextual fear conditioning tests
  (MGI Ref ID J:239016)

• decreased vocalization
  • P3 pups have less frequent ultrasonic distress calls and at lower volumes
  (MGI Ref ID J:239016)
  • pups have reduced ultrasonic vocalization when removed from the nest, which remains low until the phenotype converges with normal behavior or wild-type controls around P7
  (MGI Ref ID J:239016)
  • P3 pups have weaker calls
  (MGI Ref ID J:239016)

• impaired balance
  • Normal - however, mice show no differences on the rotating rod or in walking across a horizontal ladder
  (MGI Ref ID J:239016)
  • mice exhibit asymmetry in their motor control and an imbalance that favors their left size
  (MGI Ref ID J:239016)

• impaired cued conditioning behavior
  • Normal - mice treated subchronically with suberoylanilide hydroxamic acid show rescue of memory-associated freezing in the contextual and cued tests
  (MGI Ref ID J:239016)
  • mice show reduced freezing in the cued fear conditioning test
  (MGI Ref ID J:239016)

• increased startle reflex
  • mice exhibit enhanced startle reflex to unexpected 120 dB sound bursts
  (MGI Ref ID J:239016)

• social withdrawal
  • mice prefer social isolation over interaction with a novel mouse in the three-chamber social test
  (MGI Ref ID J:239016)

• abnormal long term spatial reference memory
  • mice have a deficit in the 24 hour object location memory indicating impaired spatial memory
  (MGI Ref ID J:239016)

• decreased grip strength
  • mice show weaker hindlimb, but not forelimb, grip strength
  (MGI Ref ID J:239016)

nervous system phenotype

• decreased prepulse inhibition
  • mice have deficits in prepulse inhibition
  (MGI Ref ID J:239016)

• enhanced long term potentiation
  • mice exhibit enhanced Schaffer collateral long-term potentiation when activated with theta burst stimulation
  (MGI Ref ID J:239016)
  • Normal - hippocampal CA1 area treated with the HDAC inhibitor Trichostatin A before theta burst stimulation normalizes the LTP
  (MGI Ref ID J:239016)

hematopoietic system phenotype

• decreased pro-B cell number
  • 50% reduction in the number of pro-B cells in homozygotes
  (MGI Ref ID J:43324)

immune system phenotype

• decreased pro-B cell number
  • 50% reduction in the number of pro-B cells in homozygotes
  (MGI Ref ID J:43324)

mortality/aging

• postnatal lethality, complete penetrance
  • homozygotes born with low frequency and died within one week of birth
  (MGI Ref ID J:43324)