mortality/aging
|
• mice die within 10-60 minutes after birth due to respiratory failure
|
respiratory system
|
• at P0 there is evidence of tissue damage and leakage of red blood cells into the collapsed airspace
|
|
• at E18.5 mice lack mature lamellar bodies
• however, the lamellae precursor multi-vesicular bodies appear normal
|
|
• despite efforts to breathe, lungs fail to inflate
• however, lung weight and gross morphology are not significantly different from control littermates
|
|
• at E18.5 mice have little to no secreted surfactant and lack mature lamellar bodies
• however, the lamellae precursor multi-vesicular bodies appear normal
• at E18.5 there is a 95% reduction in the number airspaces staining positive for surfactant protein B
• at P0 mice had little to no secreted surfactant
|
|
• failure of lung inflation after birth
|
homeostasis/metabolism
|
• at P0 an 85% reduction in the mass of phosphatidylglycerol (PG) is seen in the lungs, with all species of PG reduced
• however, the total mass of phospholipids did not differ from wild-type
• also at P0 a reduction in short chain species, but not is long chain species of phospatidylcholine is seen
• lung cholesterol homeostasis is unaffected
|
renal/urinary system
| N |
• at E18.5 there are no discernable gross abnormalities in the kidneys
(J:120296)
|
behavior/neurological
|
• soon after birth mice become lethargic
• however, at birth mice exhibit typical early motor activity including concerted efforts to breathe
|
cardiovascular system
|
• at P0 there is evidence of tissue damage and leakage of red blood cells into the collapsed airspace
|
Mouse Models of Human Disease |
OMIM ID | Ref(s) | |
| Surfactant Metabolism Dysfunction, Pulmonary, 3; SMDP3 | 610921 | J:120296 | |