Analysis Tools
mortality/aging
|
• all homozygotes die within 12 hours of birth, probably due to respiratory failure
• however, homozygotes are indistinguishable from wild-type and heterozygous controls immediately after delivery
|
homeostasis/metabolism
|
• mutant lungs exhibit fluid infiltration and edema
|
behavior/neurological
|
• newborn homozygotes lack gastric milk spots
|
|
• newborn homozygotes fail to suckle
|
|
• newborn homozygotes show limited capacity for movement and locomotion
|
respiratory system
|
• TEM analysis of mutant tracheal cilia showed that 23.7% of axonemes lack a microtubule in the central apparatus, whereas none of the wild-type or heterozygous control cilia show this central pair (CP) defect
• when two CPs are present, mutant axonemes appear to lack a C1 projection; in addition, the distance between the two CP microtubules is significantly increased, whereas the density of bridges between the two CP microtubules is reduced
• some cilia exhibit axonemes with a third central microtubule (9 + 3), unlike in wild-type cilia where a 9 + 2 microtubule arrangement is observed
|
|
• homozygotes have respiratory cilia with no or severely impaired motility
• only a few cells show motile cilia although with an uncoordinated beat
|
|
• most mutant tracheal and nasal tissue cilia are immotile
• immotile cilia also noted in mutant nasal respiratory epithelia, unlike in wild-type and heterozygous controls
• when a drop of mouse blood cells is injected into the tracheal tube, immotile cilia fail to generate directed blood cell flow in mutant tracheal preparations, unlike in wild-type controls
|
|
• mutant lungs exhibit fluid infiltration and edema
|
|
• mutant lungs exhibit disruption of alveolar epithelia
|
atelectasis
(
J:211752
)
|
• newborn homozygotes with labored breathing show reduced presence of air in the lungs
|
|
• homozygotes display excessive accumulation of mucus in the paranasal sinuses and fluid in the lungs
• homozygotes fail to clear particles from the airway
|
|
• homozygotes develop severe respiratory distress within 6-8 hours after birth
• however, lung histology is normal immediately after birth, prior to detectable labored breathing
|
|
• newborn homozygotes die from respiratory failure, consistent with airway ciliary dysfunction
|
nervous system
hydrocephaly
(
J:211752
)
|
• newborn homozygotes display evidence for evolving hydrocephalus
|
|
• newborn homozygotes display ventricular expansion in the brains
|
cellular
|
• TEM analysis of mutant tracheal cilia showed that 23.7% of axonemes lack a microtubule in the central apparatus, whereas none of the wild-type or heterozygous control cilia show this central pair (CP) defect
• when two CPs are present, mutant axonemes appear to lack a C1 projection; in addition, the distance between the two CP microtubules is significantly increased, whereas the density of bridges between the two CP microtubules is reduced
• some cilia exhibit axonemes with a third central microtubule (9 + 3), unlike in wild-type cilia where a 9 + 2 microtubule arrangement is observed
|
|
• homozygotes have respiratory cilia with no or severely impaired motility
• only a few cells show motile cilia although with an uncoordinated beat
|
|
• most mutant tracheal and nasal tissue cilia are immotile
• immotile cilia also noted in mutant nasal respiratory epithelia, unlike in wild-type and heterozygous controls
• when a drop of mouse blood cells is injected into the tracheal tube, immotile cilia fail to generate directed blood cell flow in mutant tracheal preparations, unlike in wild-type controls
|
cardiovascular system
|
• cyanotic homozygotes display a reduced heart rate, consistent with severe respiratory distress
• however, no cardiac structural defects are observed
|
growth/size/body
| N |
• newborn homozygotes do not exhibit situs inversus
|
