adipose tissue phenotype

• abnormal fat cell differentiation
  • E12.5 mouse embryonic fibroblast cells exhibit reduced adipocyte differentiation under culture conditions that induce adipocyte differentiation in wild-type cells
  (MGI Ref ID J:122334)

cellular phenotype

• abnormal fat cell differentiation
  • E12.5 mouse embryonic fibroblast cells exhibit reduced adipocyte differentiation under culture conditions that induce adipocyte differentiation in wild-type cells
  (MGI Ref ID J:122334)

adipose tissue phenotype

• decreased subcutaneous adipose tissue amount
  • at 2 weeks
  (MGI Ref ID J:147413)

hearing/vestibular/ear phenotype

• increased susceptibility to otitis media
  (MGI Ref ID J:147413)

hematopoietic system phenotype

• anemia
  • at 2 weeks
  (MGI Ref ID J:147413)

• decreased hematocrit
  • at 2 weeks
  (MGI Ref ID J:147413)

immune system phenotype

• increased susceptibility to bacterial infection
  • Normal - however, mice successfully clear bacteria from their lungs
  (MGI Ref ID J:147413)
  • mice infected with P. aeruginosa exhibit accumulation of mucus and bacterial debris along with severe inflammation and distorted morphology of the sinuses unlike similarly treated wild-type mice
  (MGI Ref ID J:147413)
  • P. aeruginosa-infected mice develop sinus and middle ear infections and fail to clear bacteria from the sinuses unlike similarly treated wild-type mice
  (MGI Ref ID J:147413)

• increased susceptibility to otitis media
  (MGI Ref ID J:147413)

• sinus inflammation
  • sinusitis develops as early as P7 that persists throughout the mouse's lifetime
  (MGI Ref ID J:147413)

integument phenotype

• decreased subcutaneous adipose tissue amount
  • at 2 weeks
  (MGI Ref ID J:147413)

cellular phenotype

• abnormal respiratory motile cilium morphology
  • ciliated cells in the adult proximal airway epithelium appear poorly differentiated with strikingly fewer ciliary projections
  (MGI Ref ID J:166685)
  • some basal bodies, from which cilia extend, are positioned distantly from the apical plasma membrane and misoriented
  (MGI Ref ID J:166685)

• decreased respiratory motile cilia number
  • Normal - a normal ciliary ultrastructure with a 9 + 2 microtubular arrangement and normal outer dynein arms are observed
  (MGI Ref ID J:147413)
  • at P0, mice have fewer cilia in their nasopharynx and proximal lung airways compared to wild-type mice
  (MGI Ref ID J:147413)
  • ciliated cells in the adult proximal airway epithelium show a significant paucity of motile cilia
  (MGI Ref ID J:166685)
  • Normal - however, the axonemal ultrastructure of existing cilia is normal
  (MGI Ref ID J:166685)

mammalian phenotype

• embryo phenotype
  • Normal - no left-right patterning defects such as situs inversus are observed, suggesting normal structure and function of motile 9 + 0 cilia in the embryonic node
  (MGI Ref ID J:147413)

mortality/aging

• decreased survivor rate
  • the 7 of 32 mice that survive weaning gain weight and survive longer than 18 months
  (MGI Ref ID J:147413)

• postnatal lethality, incomplete penetrance
  • however, the 7 of 32 mice that survive weaning gain weight and survive longer than 18 months
  (MGI Ref ID J:147413)
  • most mice die by P25
  (MGI Ref ID J:147413)

reproductive system phenotype

• male infertility
  • some males are infertile
  (MGI Ref ID J:147413)

respiratory system phenotype

• abnormal club cell morphology
  • non-ciliated Clara cells in the adult airway epithelium show atypical morphology
  (MGI Ref ID J:166685)
  • the apical protrusions of Clara cells appear more prominent than in wild-type lungs
  (MGI Ref ID J:166685)

• abnormal lung hysteresivity
  • at 10-13 wks of age, lung hysteresivity (a reflection of inhomogeneities and structural changes) is significantly increased
  (MGI Ref ID J:166685)

• abnormal pulmonary alveolar parenchyma morphology
  • at 10-13 wks of age, the gas-exchange surface area is reduced, as shown by an increased inter-airspace wall distance [mean linear intercept (Lm)] and a reduced percentage of lung parenchymal tissue
  (MGI Ref ID J:166685)
  • lipid-laden interstitial fibroblasts are often found in adult mutant lungs, unlike in wild-type lungs
  (MGI Ref ID J:166685)

• abnormal pulmonary alveolar sac morphology
  • at 10-13 wks of age, the number of alveolar saccules per mm2 is reduced by 33% relative to that in wild-type lungs
  (MGI Ref ID J:166685)

• abnormal pulmonary alveolus epithelial cell morphology
  • adult mice show altered differentiation of alveolar epithelial cell lineages
  (MGI Ref ID J:166685)

• abnormal respiratory conducting tube morphology
  • at 10-13 wks of age, the proportion of lung airway lumen to the total lung area is significantly greater than that in wild-type lungs
  (MGI Ref ID J:166685)

• abnormal respiratory epithelium morphology
  • at P0, mice exhibit ciliary defects in their nasopharynx and proximal lung airways, partly due to impaired basal body docking to the apical membrane of multiciliated cells
  (MGI Ref ID J:147413)
  • the adult proximal airway epithelium displays abnormal morphology and disorganization of both ciliated and non-ciliated Clara cells
  (MGI Ref ID J:166685)

• abnormal respiratory mechanics
  • at 10-13 wks of age, mice exhibit abnormal pressure-volume (PV) relationships showing relatively small changes in volume with the same increments in applied transpulmonary pressure both initially and at high pressures
  (MGI Ref ID J:166685)

• abnormal respiratory motile cilium morphology
  • ciliated cells in the adult proximal airway epithelium appear poorly differentiated with strikingly fewer ciliary projections
  (MGI Ref ID J:166685)
  • some basal bodies, from which cilia extend, are positioned distantly from the apical plasma membrane and misoriented
  (MGI Ref ID J:166685)

• abnormal type I pneumocyte morphology
  • type I cells alveolar display a significantly thickened, disorganized morphology
  (MGI Ref ID J:166685)

• abnormal type II pneumocyte morphology
  • type II alveolar cells display dramatic changes in morphology with a dark electron-dense appearance
  (MGI Ref ID J:166685)

• decreased airway resistance
  • at 10-13 wks of age, airway resistance is decreased
  (MGI Ref ID J:166685)

• decreased lung compliance
  • at 10-13 wks of age, static compliance (a reflection of elastic recoil at a given pressure) is reduced
  (MGI Ref ID J:166685)

• decreased respiratory motile cilia number
  • Normal - a normal ciliary ultrastructure with a 9 + 2 microtubular arrangement and normal outer dynein arms are observed
  (MGI Ref ID J:147413)
  • at P0, mice have fewer cilia in their nasopharynx and proximal lung airways compared to wild-type mice
  (MGI Ref ID J:147413)
  • ciliated cells in the adult proximal airway epithelium show a significant paucity of motile cilia
  (MGI Ref ID J:166685)
  • Normal - however, the axonemal ultrastructure of existing cilia is normal
  (MGI Ref ID J:166685)

• impaired lung alveolus development
  • Normal - however, no significant differences in alveolar septation are observed
  (MGI Ref ID J:166685)
  • in adult lungs, the number of alveoli is significantly reduced relative to that in wild-type controls
  (MGI Ref ID J:166685)

• impaired mucociliary clearance
  • unlike wild-type mice, 3 of 4 mice lack mucociliary function with the fourth mouse exhibiting small islands of local mucus movement that were not enough to generate mucociliary transport
  (MGI Ref ID J:147413)

• increased alveolar lamellar body number
  • some type II alveolar cells appear to contain an increased number of lamellar bodies
  (MGI Ref ID J:166685)

• increased lung elastance
  • tissue elastance (a reflection of the energy conservation in lung tissues) is substantially increased relative to that in wild-type lungs
  (MGI Ref ID J:166685)

• increased lung tissue damping
  • tissue damping (a reflection of the energy dissipation) is also significantly increased
  (MGI Ref ID J:166685)

• overexpanded pulmonary alveoli
  • enlarged alveolar airspaces are detected as early as P7 and persist in adult lungs
  (MGI Ref ID J:166685)
  • Normal - however, lung morphology is not significantly altered at E18.5 or P4
  (MGI Ref ID J:166685)
  • Normal - no signs of inflammation, infection or fibrosis are observed up to 18 months of age
  (MGI Ref ID J:166685)

• pulmonary hypoplasia
  • at P11, mutant lungs display a dramatic reduction in cell proliferation, as revealed by BrdU incorporation assays
  (MGI Ref ID J:166685)
  • Normal - however, no significant differences in apoptosis are observed
  (MGI Ref ID J:166685)

• sinus inflammation
  • sinusitis develops as early as P7 that persists throughout the mouse's lifetime
  (MGI Ref ID J:147413)

growth/size/body region phenotype

• decreased body size
  • at 2 weeks, mice are runted
  (MGI Ref ID J:147413)
  • mice that survive weaning exhibit low body mass compared to wild-type mice
  (MGI Ref ID J:147413)

• slow postnatal weight gain
  • neonatal mice appear grossly normal at birth but fail to gain weight
  (MGI Ref ID J:166685)