digestive/alimentary phenotype

• abnormal intestinal goblet cell physiology
  • goblet cells exhibit increased mucin accumulation compared with control cells
  (MGI Ref ID J:206181)

behavior/neurological phenotype

• head tilt
  (MGI Ref ID J:132359)
  • head- and body tilt can be observed at approximately 4 weeks of age with average onset 4.6 +/- 0.6 weeks
  (MGI Ref ID J:82238)

• impaired swimming
  • mutant mice are unable to remain at the surface of the water in a forced swim test whereas control mice are good swimmers
  (MGI Ref ID J:132359)

• impaired balance
  • mice exhibit a body tilt
  (MGI Ref ID J:132359)

immune system phenotype

• increased susceptibility to bacterial infection
  • from control littermates do not contain any bacteria
  (MGI Ref ID J:132359)
  • defective bacterial clearance in mutant mice is shown in lung homogenates; at 3.5 days post-infection with 10⁴ CFU of Burkholderia cepacia, mutant lung homogenates contain more than 10⁸ CFU of bacteria, while lung homogenates from control littermates do not contain any bacteria
  (MGI Ref ID J:132359)
  • mutant animals innoculated intratrachially with 10⁶ CFU of Burkholderia cepacia succumb to the infection within 3 days of infection with animals dying within 24 hours of the first signs of respiratory distress
  (MGI Ref ID J:132359)

• lung inflammation
  • at 3.5 days post-infection with 10⁴ CFU of Burkholderia cepacia, mutant lung tissue is damaged by necrotizing pneumonia and alveolar spaces are filled with granulocytes, macrophages and cell debris
  (MGI Ref ID J:132359)

• sepsis
  • at 3.5 days post-infection with 10⁴ CFU of Burkholderia cepacia, mutant spleen contains large numbers of Burkholderia cepacia, whereas controls do not
  (MGI Ref ID J:132359)

• abnormal neutrophil physiology
  • Nox activity is completely absent from mutant neutrophils
  (MGI Ref ID J:132359)
  • mutant neutrophils do not produce superoxide in either the presence or absence of PMA, in contrast to controls
  (MGI Ref ID J:132359)

• increased inflammatory response
  • at 3.5 days post-infection with 10⁴ CFU of Burkholderia cepacia, spleen derived from mutant mice contain necrotic areas and increased numbers of polymorphonuclear cells within the marginal zone and the red pulp
  (MGI Ref ID J:132359)

mammalian phenotype

• hearing/vestibular/ear phenotype
  • Normal - hearing is unaffected in mutant mice as assessed by ABR analysis
  (MGI Ref ID J:132359)

respiratory system phenotype

• lung inflammation
  • at 3.5 days post-infection with 10⁴ CFU of Burkholderia cepacia, mutant lung tissue is damaged by necrotizing pneumonia and alveolar spaces are filled with granulocytes, macrophages and cell debris
  (MGI Ref ID J:132359)

hearing/vestibular/ear phenotype

• absent linear vestibular evoked potential
  • encephalographs indicate that mutant mice are nonresponsive even at maximum accelerations
  (MGI Ref ID J:132359)

• absent otoliths
  • otoconia are absent in the utricle and saccule of newborn mutant mice
  (MGI Ref ID J:132359)

hematopoietic system phenotype

• abnormal neutrophil physiology
  • mutant neutrophils do not produce superoxide in either the presence or absence of PMA, in contrast to controls
  (MGI Ref ID J:132359)
  • Nox activity is completely absent from mutant neutrophils
  (MGI Ref ID J:132359)