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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Abca3tm1Frm
targeted mutation 1, Mason W Freeman
MGI:3706347
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Abca3tm1Frm/Abca3tm1Frm involves: 129S/SvEv MGI:3707163


Genotype
MGI:3707163
hm1
Allelic
Composition
Abca3tm1Frm/Abca3tm1Frm
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca3tm1Frm mutation (0 available); any Abca3 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die within 10-60 minutes after birth due to respiratory failure (J:120296)
• mice die within 10-60 minutes after birth due to respiratory failure (J:120296)

respiratory system
• at P0 there is evidence of tissue damage and leakage of red blood cells into the collapsed airspace (J:120296)
• at P0 there is evidence of tissue damage and leakage of red blood cells into the collapsed airspace (J:120296)
• at E18.5 mice lack mature lamellar bodies (J:120296)
• however, the lamellae precursor multi-vesicular bodies appear normal (J:120296)
• at E18.5 mice lack mature lamellar bodies (J:120296)
• however, the lamellae precursor multi-vesicular bodies appear normal (J:120296)
• despite efforts to breathe, lungs fail to inflate (J:120296)
• however, lung weight and gross morphology are not significantly different from control littermates (J:120296)
• despite efforts to breathe, lungs fail to inflate (J:120296)
• however, lung weight and gross morphology are not significantly different from control littermates (J:120296)
• at E18.5 mice have little to no secreted surfactant and lack mature lamellar bodies (J:120296)
• however, the lamellae precursor multi-vesicular bodies appear normal (J:120296)
• at E18.5 there is a 95% reduction in the number airspaces staining positive for surfactant protein B (J:120296)
• at P0 mice had little to no secreted surfactant (J:120296)
• at E18.5 mice have little to no secreted surfactant and lack mature lamellar bodies (J:120296)
• however, the lamellae precursor multi-vesicular bodies appear normal (J:120296)
• at E18.5 there is a 95% reduction in the number airspaces staining positive for surfactant protein B (J:120296)
• at P0 mice had little to no secreted surfactant (J:120296)
• failure of lung inflation after birth (J:120296)
• failure of lung inflation after birth (J:120296)

homeostasis/metabolism
• mice become cyanotic shortly after birth (J:120296)
• mice become cyanotic shortly after birth (J:120296)
• at P0 an 85% reduction in the mass of phosphatidylglycerol (PG) is seen in the lungs, with all species of PG reduced (J:120296)
• however, the total mass of phospholipids did not differ from wild-type (J:120296)
• also at P0 a reduction in short chain species, but not is long chain species of phospatidylcholine is seen (J:120296)
• lung cholesterol homeostasis is unaffected (J:120296)
• at P0 an 85% reduction in the mass of phosphatidylglycerol (PG) is seen in the lungs, with all species of PG reduced (J:120296)
• however, the total mass of phospholipids did not differ from wild-type (J:120296)
• also at P0 a reduction in short chain species, but not is long chain species of phospatidylcholine is seen (J:120296)
• lung cholesterol homeostasis is unaffected (J:120296)

renal/urinary system
N
• at E18.5 there are no discernable gross abnormalities in the kidneys (J:120296)
• at E18.5 there are no discernable gross abnormalities in the kidneys (J:120296)

behavior/neurological
• soon after birth mice become lethargic (J:120296)
• however, at birth mice exhibit typical early motor activity including concerted efforts to breathe (J:120296)
• soon after birth mice become lethargic (J:120296)
• however, at birth mice exhibit typical early motor activity including concerted efforts to breathe (J:120296)

cardiovascular system
• at P0 there is evidence of tissue damage and leakage of red blood cells into the collapsed airspace (J:120296)
• at P0 there is evidence of tissue damage and leakage of red blood cells into the collapsed airspace (J:120296)

Mouse Models of Human Disease
OMIM ID Ref(s)
Surfactant Metabolism Dysfunction, Pulmonary, 3; SMDP3 610921 J:120296





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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory