integument phenotype

• skin lesions
  • at 3 to 6 months of age, mice exhibit pronounced skin lesions with varying degrees of penetrance due to excessive self-grooming unlike wild-type mice
  (MGI Ref ID J:171113)

mammalian phenotype

• behavior/neurological phenotype
  • Normal - mice exhibit normal learning and memory in a Morris water maze
  (MGI Ref ID J:171113)

nervous system phenotype

• abnormal medium spiny neuron morphology
  • medium spiny neurons exhibit neuronal hypertrophy with increased complexity of dendritic arborization, total dendritic length, and surface area compared to in wild-type mice
  (MGI Ref ID J:171113)
  • spine density is reduced compared to in wild-type mice
  (MGI Ref ID J:171113)
  • the neck width of medium spiny neuron spines is slightly larger than in wild-type mice
  (MGI Ref ID J:171113)

• abnormal postsynaptic density morphology
  • mice exhibit abnormal post-synaptic density composition compared to in wild-type mice
  (MGI Ref ID J:171113)

• environmentally induced seizures
  • Normal - however, no spontaneous seizures are observed
  (MGI Ref ID J:171113)
  • mice occasionally exhibit handling-induced seizures unlike wild-type mice
  (MGI Ref ID J:171113)

• abnormal miniature excitatory postsynaptic currents
  • reduced frequency and peak amplitude in medium spiny neurons
  (MGI Ref ID J:171113)
  • Normal - however, miniature excitatory postsynaptic current frequency and amplitude in the hippocampal CA1 sub-region are normal
  (MGI Ref ID J:171113)

• abnormal striatum morphology
  • mice exhibit striatal hypertrophy compared with wild-type mice
  (MGI Ref ID J:171113)

behavior/neurological phenotype

• increased anxiety-related response
  • Normal - however, mice exhibit normal thigmotaxis in an open field and time spent on either side of the box in the light-dark emergence test
  (MGI Ref ID J:171113)
  • mice exhibit increased latency to crossing a bright area in a light-dark emergence test compared with wild-type mice
  (MGI Ref ID J:171113)
  • mice exhibit less time exploring the open arms of an elevated plus maze compared with wild-type mice
  (MGI Ref ID J:171113)

• social withdrawal
  • mice spend less time interacting with a social partner than wild-type mice
  (MGI Ref ID J:171113)
  • mice fail to spend more time with a novel social partner unlike wild-type mice
  (MGI Ref ID J:171113)
  • social withdrawal is not alleviated by cross fostering pups with wild-type dams
  (MGI Ref ID J:171113)
  • mice prefer to interact with an empty cage rather than a social partner unlike wild-type mice
  (MGI Ref ID J:171113)

• decreased vertical activity
  (MGI Ref ID J:171113)

• environmentally induced seizures
  • Normal - however, no spontaneous seizures are observed
  (MGI Ref ID J:171113)
  • mice occasionally exhibit handling-induced seizures unlike wild-type mice
  (MGI Ref ID J:171113)

• increased grooming behavior
  • resulting in skin lesions
  (MGI Ref ID J:171113)

nervous system phenotype

• abnormal dendritic mushroom spine morphology
  • hippocampal neurons exhibit fewer mushroom-like spines
  (MGI Ref ID J:305052)

• abnormal miniature excitatory postsynaptic currents
  • pyramidal-like hippocampal neurons show reduced miniature excitatory postsynaptic currents (mEPSCs) frequency, without changes in mEPSC amplitude
  (MGI Ref ID J:305052)

• abnormal postsynaptic density morphology
  • marker analysis indicates a change in postsynaptic density architecture
  (MGI Ref ID J:305052)

• abnormal dendritic thin spine morphology
  • hippocampal neurons exhibit a greater number of immature thin spines
  (MGI Ref ID J:305052)

behavior/neurological phenotype

• abnormal learning/memory/conditioning
  • mice are incapable of completing pre-training tasks for the touchscreen pairwise discrimination test, showing a trend towards completing fewer trials in stage 1, significantly fewer trials is stage 2, and require more days to reach criterion in stage 3
  (MGI Ref ID J:243083)

• hypoactivity
  • mice show reduced activity in the open field
  (MGI Ref ID J:243083)

behavior/neurological phenotype

• impaired discrimination learning
  • Normal - however, mice exhibit normal open field activity and sociability in the three chamber test
  (MGI Ref ID J:243083)
  • in the touchscreen pairwise discrimination task, mice are slower to reach criterion and exhibit trends toward making more errors (first trial errors) and more correction errors than wild-type mice
  (MGI Ref ID J:243083)