Phenotypes Associated with This Genotype

Genotype
MGI:3711224

• Allelic Composition: Abca3^tm1Nina/Abca3^tm1Nina
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

Lung abnormalities in Abca3^tm1Nina/Abca3^tm1Nina mice, including pulmonary congestion and atelectasis

mortality/aging

neonatal lethality, complete penetrance ( J:121155 )

• mice die shortly after birth from acute respiratory failure

respiratory system

pulmonary vascular congestion ( J:121155 )

abnormal lung development ( J:121155 )

• lung maturation is impaired

abnormal lung saccule morphology ( J:121155 )

• dilation of peripheral saccules in terminal buds is reduced

• peripheral saccules are lined by cuboidal epithelial cells with no typical squamous type I cells

thick lung-associated mesenchyme ( J:121155 )

• mesenchyme remains thickened

abnormal bronchiole epithelium morphology ( J:121155 )

• glycogen content is increased in the bronchiolar epithelium

absent type I pneumocytes ( J:121155 )

• no typical squamous type I cells are observed

abnormal type II pneumocyte morphology ( J:121155 )

abnormal alveolar lamellar body morphology ( J:121155 )

• only smaller lamellar body-like organelles with dense peripheral inclusions are detected in alveolar type II cells

absent alveolar lamellar bodies ( J:121155 )

• lamellar bodies are absent

increased wet-to-dry lung weight ratio ( J:121155 )

• wet lung weight is increased by 32%

atelectasis ( J:121155 )

• extensive atelectasis

respiratory failure ( J:121155 )

• mice initiate normal respiratory effort at birth but fail to inflate lungs

• mice have acute respiratory distress syndrome

abnormal surfactant composition ( J:121155 )

• SP-C protein is not detected in lung homogenate although other surfactants are present

• phosphatidylcholine and phosphaglycerol fractions are reduced by 63% and 96%, respectively, as was the ratio of these lipids to total lipids

• phosphatidyethanolamine levels are decreased by 45%

homeostasis/metabolism

cyanosis ( J:121155 )

cardiovascular system

pulmonary vascular congestion ( J:121155 )

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:121155