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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Abca3tm1Nina
targeted mutation 1, Nobuya Inagaki
MGI:3709991
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Abca3tm1Nina/Abca3tm1Nina involves: 129P2/OlaHsd * C57BL/6J MGI:3711224


Genotype
MGI:3711224
hm1
Allelic
Composition
Abca3tm1Nina/Abca3tm1Nina
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca3tm1Nina mutation (0 available); any Abca3 mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Lung abnormalities in Abca3tm1Nina/Abca3tm1Nina mice, including pulmonary congestion and atelectasis

mortality/aging
• mice die shortly after birth from acute respiratory failure

respiratory system
• lung maturation is impaired
• dilation of peripheral saccules in terminal buds is reduced
• peripheral saccules are lined by cuboidal epithelial cells with no typical squamous type I cells
• mesenchyme remains thickened
• glycogen content is increased in the bronchiolar epithelium
• no typical squamous type I cells are observed
• only smaller lamellar body-like organelles with dense peripheral inclusions are detected in alveolar type II cells
• lamellar bodies are absent
• wet lung weight is increased by 32%
• mice initiate normal respiratory effort at birth but fail to inflate lungs
• mice have acute respiratory distress syndrome
• 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%
• extensive atelectasis

homeostasis/metabolism

cardiovascular system

Mouse Models of Human Disease
OMIM ID Ref(s)
Surfactant Metabolism Dysfunction, Pulmonary, 3; SMDP3 610921 J:121155





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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory