Mouse Genome Informatics
hm1
    Abca3tm1Frm/Abca3tm1Frm
involves: 129S/SvEv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
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
• mice become cyanotic shortly after birth
• 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 IDRef(s)
Surfactant Metabolism Dysfunction, Pulmonary, 3; SMDP3 610921 J:120296