Phenotypes Associated with This Genotype

Genotype
MGI:3757574

• Allelic Composition: Abca3^tm1Dgen/Abca3^tm1Dgen
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

Lung abnormalities in Abca3^tm1Dgen/Abca3⁺, and Abca3^tm1Dgen/Abca3^tm1Dgen mice

mortality/aging

neonatal lethality, complete penetrance ( J:124809 )

• mice that are born die within 16 hours of birth

prenatal lethality, incomplete penetrance ( J:124809 )

• 50% fewer embryos are born or present at E18.5 than expected

respiratory system

abnormal pulmonary alveolus morphology ( J:124809 )

• at E18.5, mice have thick interalveolar septa and small air spaces compared to wild-type mice

absent alveolar lamellar bodies ( J:124809 )

• at E18.5, mice lack lamellar bodies

thick pulmonary interalveolar septum ( J:124809 )

abnormal surfactant secretion ( J:124809 )

• mature Sftpb levels are decreased relative to in wild-type mice

• Sftpa1 and Sftpd levels are slightly decreased compared to in wild-type and heterozygous mice

• however, pro-Sftpb precursor levels are similar to in wild-type mice