Phenotypes associated with this allele

• Allele Symbol: Abca3^tm1Dgen
• Allele Name: targeted mutation 1, Deltagen
• Allele ID: MGI:3757572
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Abca3^tm1Dgen/Abca3^tm1Dgen	involves: 129P2/OlaHsd * C57BL/6J	MGI:3757574
ht2	Abca3^tm1Dgen/Abca3^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:3757575

Genotype
MGI:3757574

hm1

• 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

Genotype
MGI:3757575

ht2

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

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

respiratory system

abnormal lung development ( J:124809 )

• some mice do not have well developed lungs

decreased alveolar lamellar body number ( J:124809 )

• at 6 months, mice have fewer lamellar bodies in their lungs than wild-type mice

abnormal surfactant physiology ( J:124809 )

• Sftpb staining is decreased as measured by immunohistochemistry but normal by western blot

• incorporation of radiolabeled substrates into newly synthesized disaturated phosphatidylcholine, phosphatidyl glycerol, phosphatidylethanolamine and phosphatidylserine in the lamellar bodies and surfactant is lower than in wild-type mice