Phenotypes associated with this allele

• Allele Symbol: Sftpd^tm1Haw
• Allele Name: targeted mutation 1, Samuel Hawgood
• Allele ID: MGI:1931531
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sftpd^tm1Haw/Sftpd^tm1Haw	involves: C57BL/6J * CD-1	MGI:3606939

Genotype
MGI:3606939

hm1

• Allelic Composition: Sftpd^tm1Haw/Sftpd^tm1Haw
• Genetic Background: involves: C57BL/6J * CD-1

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

mortality/aging

mortality/aging ( J:50147 )

N • homozygotes are viable, fertile, overtly normal and apparently free of viral infections up to 7 months of age

hematopoietic system

abnormal alveolar macrophage morphology ( J:50147 , J:98220 )

• by 8 weeks, homozygotes exhibit a significant increase in alveolar macrophage size, with many macrophages being both multinucleated and foamy in appearance (J:50147)

• at 8 and 24 weeks, homozygotes exhibit a 4- and 10-fold increase in BAL alveolar macrophage number, respectively (J:50147)

abnormal macrophage physiology ( J:98220 )

• consistent with emphysema-like changes, homozygotes exhibit a significant increase in macrophage activation, as shown by increased MMP-12 expression in alveolar macrophages (>300-fold) and in whole lung tissue (>30-fold)

immune system

abnormal alveolar macrophage morphology ( J:50147 , J:98220 )

• by 8 weeks, homozygotes exhibit a significant increase in alveolar macrophage size, with many macrophages being both multinucleated and foamy in appearance (J:50147)

• at 8 and 24 weeks, homozygotes exhibit a 4- and 10-fold increase in BAL alveolar macrophage number, respectively (J:50147)

abnormal macrophage physiology ( J:98220 )

• consistent with emphysema-like changes, homozygotes exhibit a significant increase in macrophage activation, as shown by increased MMP-12 expression in alveolar macrophages (>300-fold) and in whole lung tissue (>30-fold)

respiratory system

abnormal lung morphology ( J:50147 )

• starting at 3 weeks, homozygotes display progressive accumulation of surfactant lipids in the alveolar space, foamy macrophages, and peribronchial cellular infiltrate, with no histological evidence of lung inflammation or injury at any age

abnormal alveolar macrophage morphology ( J:50147 , J:98220 )

• by 8 weeks, homozygotes exhibit a significant increase in alveolar macrophage size, with many macrophages being both multinucleated and foamy in appearance (J:50147)

• at 8 and 24 weeks, homozygotes exhibit a 4- and 10-fold increase in BAL alveolar macrophage number, respectively (J:50147)

abnormal pulmonary alveolus morphology ( J:50147 )

• homozygotes exhibit progressive accumulation of surfactant lipids and apoproteins in the alveolar space

• notably, abnormal surfactant homeostasis is not associated with detectable alterations in surfactant surface activity, postnatal respiratory function, or survival

abnormal pulmonary alveolus epithelium morphology ( J:98220 )

• homozygotes display reduced alveolar epithelial surface area relative to wild-type mice

enlarged alveolar lamellar bodies ( J:50147 , J:98220 )

increased type II pneumocyte number ( J:50147 , J:98220 )

• starting at 3 weeks, homozygotes exhibit progressive hyperplasia of type II pneumocytes with massive enlargement of intracellular lamellar bodies evident at >8 weeks (J:50147)

• mutant alveolar type II cells appear to be more numerous and occasionally contain giant lamellar bodies that are rarely found in wild-type cells (J:98220)

• hyperplasia and hypertrophy of type II cells is associated with an increased intracellular surfactant pool due to an increased number of lamellar bodies per cell (J:98220)

overexpanded pulmonary alveolus ( J:50147 , J:98220 )

• homozygotes exhibit fewer but enlarged distal air spaces and accumulation of intra-alveolar surfactant material, organized as lamellar body-like forms, tubular myelin, and unilamellar vesicles (J:50147)

thick pulmonary interalveolar septum ( J:98220 )

emphysema ( J:98220 )

• mutant lungs show emphysematous changes including reduced alveolar surface area, thicker alveolar septae, and fewer but larger alveoli relative to wild-type lungs

abnormal surfactant physiology ( J:98220 )

• homozygotes develop abnormal surfactant phospholipid homeostasis, as shown by progressive accumulation of pulmonary surfactant lipids and altered phospholipid structures

abnormal surfactant secretion ( J:98220 )

• at 8 weeks, homozygotes exhibit a 2.4- and 6-fold increase in BAL SP-A and SP-B protein levels, respectively

homeostasis/metabolism

abnormal cholesterol homeostasis ( J:50147 )

• at 8 weeks, homozygotes exhibit a 6-fold increase in the cholesterol content of cell-free BAL relative to wild-type mice