Phenotypes Associated with This Genotype

Genotype
MGI:2677854

• Allelic Composition: Sftpb^tm1Jaw/Sftpb^tm1Jaw
• Genetic Background: involves: 129S2/SvPas * Black Swiss

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:28289 )

• most homozygotes die within 20 min after birth due to respiratory failure

respiratory system

abnormal pulmonary alveolus morphology ( J:28289 )

• homozygotes exhibit absence of tubular myelin figures in the alveolar space, abnormal Golgi apparatus, and alveolar lipid aggregates composed of small vesicles and electron-dense proteinaceous material

abnormal type II pneumocyte morphology ( J:28289 )

• mutant type II pneumocytes lack fully formed lamellar bodies

absent alveolar lamellar bodies ( J:28289 )

• absence of fully formed lamellar bodies

atelectasis ( J:28289 )

• mutant lungs develop normally but do not fill with air, in spite of postnatal respiratory efforts

respiratory distress ( J:28289 )

• homozygotes exhibit lethal neonatal respiratory distress

respiratory failure ( J:28289 )

abnormal surfactant physiology ( J:28289 )

• homozygotes display aberrant routing, storage and function of surfactant phospholipids and proteins

abnormal surfactant composition ( J:28289 )

• surfactant contains an aberrant form of pro-SP-C, and there is a significant reduction in fully processed SP-C peptide in lung homogenates

abnormal surfactant secretion ( J:28289 )

• significant reduction in fully processed SP-C peptide in lung homogenates is observed

behavior/neurological

pup cannibalization ( J:28289 )

♀ • as a result of respiratory failure, dams occasionally cannibalize affected pups during the early postnatal period

homeostasis/metabolism

cyanosis ( J:28289 )

abnormal lipid homeostasis ( J:28289 )

• homozygotes display aberrant routing, storage and function of surfactant phospholipids and proteins, as evidenced by the presence of an aberrant form of pro-SP-C, and a significant reduction in fully processed SP-C peptide in lung homogenates