mammalian phenotype

• behavior/neurological phenotype
  • Normal - mice show no obvious defects in locomotor activity and anxiety-related behavioral tests in the light-dark box and elevated plus maze, show normal spatial learning, memory, and reversal learning, normal acoustic startle response and prepulse inhibition, and normal ultrasonic vocalizations of pups when separated from their mothers
  (MGI Ref ID J:271067)

nervous system phenotype

• decreased dendritic spine density
  • spine densities in the basal dendrites of layer II/III pyramidal neurons in the cortex and the apical dendrites of CA1 pyramidal neurons in the hippocampus are decreased
  (MGI Ref ID J:271067)

• abnormal neuronal migration
  • fewer neurons migrate into the cortical plate at E18.5
  (MGI Ref ID J:271067)
  • mice show a shorter migration of the dye DiI in brains, indicating impaired neural connection and migration
  (MGI Ref ID J:271067)

• reduced long term potentiation
  • Normal - however, basal synaptic transmission is normal as indicated by normal input-output curves and paired-pulse facilitation and mice exhibit normal input-output curves and paired-pulse response of AMPAR current in the cortex
  (MGI Ref ID J:271067)
  • theta burst-induced long-term potentiation magnitude is attenuated within 1 hour in hippocampal slices
  (MGI Ref ID J:271067)

• abnormal excitatory postsynaptic potential
  • the field excitatory post-synaptic potentials (fEPSP) slope changes induced by theta burst stimulation in hippocampal slices are diminished within 1 hour
  (MGI Ref ID J:271067)

• abnormal postsynaptic density morphology
  • the numbers, but not lengths, of synapses are reduced in the cortex and hippocampus indicating reduced synapse density
  (MGI Ref ID J:271067)
  • Normal - however, cortex and hippocampus size are normal and neuron density in the cortex is normal
  (MGI Ref ID J:271067)

behavior/neurological phenotype

• abnormal social investigation
  • mice show reduced preference index in the social interaction test
  (MGI Ref ID J:271067)
  • in the three-chamber social interaction test, mice show decreased interaction time with a stranger mouse compared to wild-type mice
  (MGI Ref ID J:271067)

• increased grooming behavior
  • mice spend more time grooming themselves
  (MGI Ref ID J:271067)

• abnormal response to social novelty
  • the preference index of social memory is reduced
  (MGI Ref ID J:271067)
  • in the social memory test, mice do not show a preference for interacting with a new stranger mouse than the familiar mouse
  (MGI Ref ID J:271067)

• increased stereotypic behavior
  • mice bury more marbles than wild-type mice in the marble burying test
  (MGI Ref ID J:271067)

• social withdrawal
  • mice show avoidance behavior to a mouse in the social defeat box
  (MGI Ref ID J:271067)

cellular phenotype

• abnormal neuronal migration
  • fewer neurons migrate into the cortical plate at E18.5
  (MGI Ref ID J:271067)
  • mice show a shorter migration of the dye DiI in brains, indicating impaired neural connection and migration
  (MGI Ref ID J:271067)

• abnormal actin cytoskeleton morphology
  • F-actin levels are decreased in cortex layers II/III and the hippocampus CA1 region
  (MGI Ref ID J:271067)