Phenotypes associated with this allele

• Allele Symbol: Abca3^tm1Frm
• Allele Name: targeted mutation 1, Mason W Freeman
• Allele ID: MGI:3706347
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Abca3^tm1Frm/Abca3^tm1Frm	involves: 129S/SvEv	MGI:3707163

Genotype
MGI:3707163

hm1

• Allelic Composition: Abca3^tm1Frm/Abca3^tm1Frm
• Genetic Background: involves: 129S/SvEv

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

neonatal lethality, complete penetrance ( J:120296 )

• mice die within 10-60 minutes after birth due to respiratory failure

respiratory system

pulmonary alveolar hemorrhage ( J:120296 )

• at P0 there is evidence of tissue damage and leakage of red blood cells into the collapsed airspace

absent alveolar lamellar bodies ( J:120296 )

• at E18.5 mice lack mature lamellar bodies

• however, the lamellae precursor multi-vesicular bodies appear normal

primary atelectasis ( J:120296 )

• failure of lung inflation after birth

respiratory failure ( J:120296 )

• despite efforts to breathe, lungs fail to inflate

• however, lung weight and gross morphology are not significantly different from control littermates

abnormal surfactant secretion ( J:120296 )

• 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

homeostasis/metabolism

cyanosis ( J:120296 )

• mice become cyanotic shortly after birth

abnormal lipid homeostasis ( J:120296 )

• 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

renal/urinary system phenotype ( J:120296 )

N • at E18.5 there are no discernable gross abnormalities in the kidneys

behavior/neurological

lethargy ( J:120296 )

• soon after birth mice become lethargic

• however, at birth mice exhibit typical early motor activity including concerted efforts to breathe

cardiovascular system

pulmonary alveolar hemorrhage ( J:120296 )

• at P0 there is evidence of tissue damage and leakage of red blood cells into the collapsed airspace

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pulmonary alveolar proteinosis		DOID:12120	OMIM:265120 OMIM:300770 OMIM:610913 OMIM:610921 OMIM:614370	J:120296