behavior/neurological phenotype

• impaired limb coordination
  • 25% more errors than controls on a notched bar test of hindlimb performance
  (MGI Ref ID J:167359)

• decreased anxiety-related response
  • less time spent in the periphery of an open field test
  (MGI Ref ID J:167359)

• abnormal spatial learning
  • slower to learn task in a Morris Maze test
  (MGI Ref ID J:167359)
  • travelled further to find the hidden platform
  (MGI Ref ID J:167359)

• abnormal learning/memory/conditioning
  (MGI Ref ID J:167359)

• abnormal motor coordination/balance
  (MGI Ref ID J:167359)

• abnormal social investigation
  • no distinction made between mice after the later introduction of a second new mouse
  (MGI Ref ID J:167359)
  • Normal - investigation of a newly introduced mouse is normal
  (MGI Ref ID J:167359)

• abnormal spatial reference memory
  • little retention of learning seen during probe trials in a Morris Maze test
  (MGI Ref ID J:167359)

• impaired coordination
  • perform poorly on a rotarod
  (MGI Ref ID J:167359)
  • fall of a rotarod more rapidly and at slower speeds
  (MGI Ref ID J:167359)
  • rotarod performance does not improve with practice
  (MGI Ref ID J:167359)

behavior/neurological phenotype

• abnormal response to novel object
  • mice spend less time exploring a novel object than wild-type mice
  (MGI Ref ID J:101383)

skeleton phenotype

• abnormal mandible morphology
  • mutant mice exhibit a mandible that is smaller between the coronoid process and the mandibular angle and between the coronoid process and the most superior point of the incisor alveolar rim
  (MGI Ref ID J:101383)

cardiovascular system phenotype

• failure of atrioventricular cushion closure
  • seen in mice with a full atrioventricular canal defect
  (MGI Ref ID J:101383)

• perimembraneous ventricular septal defect
  • 7 of 11 mice exhibit a perimembranous ventral septal defect such that the ventricular septum fails to fuse to the proximal outflow cushion tracts
  (MGI Ref ID J:101383)

• overriding aortic valve
  • in one mouse that also displayed a ventricular septum defect
  (MGI Ref ID J:101383)

• atrioventricular septal defect
  • one mouse exhibited an atrioventricular septal defect associated with unfused atrioventricular cushions
  (MGI Ref ID J:101383)

• dextrocardia
  • some mice exhibit hearts that are tilted onto their right unlike in wild-type mice
  (MGI Ref ID J:101383)

craniofacial phenotype

• abnormal mandible morphology
  • mutant mice exhibit a mandible that is smaller between the coronoid process and the mandibular angle and between the coronoid process and the most superior point of the incisor alveolar rim
  (MGI Ref ID J:101383)

nervous system phenotype

• reduced long term potentiation
  (MGI Ref ID J:101383)

• decreased neuron number
  • mice exhibit a reduction in the number of granule neurons in the cerebellum compared to wild-type mice
  (MGI Ref ID J:101383)