mortality/aging
• no viable homozygous offspring are identified, but dissections of fetuses on E18.5 show a normal Mendelian distribution of genotypes
• newborns die within minutes of birth
|
behavior/neurological
respiratory system
• presumptive terminal alveoli show abnormal development or expansion, with reduced relative percentages of airways vs parenchyma in mutant lungs
|
• there are decreased numbers of cells containing lamellar bodies which contain surfactant and lipids
|
small lung
(
J:117591
)
• lungs are compacted
|
atelectasis
(
J:117591
)
• lungs of dead pups are not aerated and sink when placed in water
|
• newborns do not make any breathing movements after birth although they initially respond to physical stimuli with movement
|
• quantity of surfactants released into lung airspace is reduced in mutants
|
homeostasis/metabolism
• mutants show incomplete barrier function under chin, and around ears and paws, shown by a dye uptake experiment
|
integument
• mutants show incomplete barrier function under chin, and around ears and paws, shown by a dye uptake experiment
|
• impaired stratum corneum formation is observed in mutant epidermis
|
• some neonates and E18.5 mice have a severe skin phenotype characterized by shiny, fragile, sticky, and easily removable skin
|
shiny skin
(
J:117591
)
• some newborns have shiny skin
|