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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Sftpdtm1Haw
targeted mutation 1, Samuel Hawgood
MGI:1931531
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Sftpdtm1Haw/Sftpdtm1Haw involves: C57BL/6J * CD-1 MGI:3606939


Genotype
MGI:3606939
hm1
Allelic
Composition
Sftpdtm1Haw/Sftpdtm1Haw
Genetic
Background
involves: C57BL/6J * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sftpdtm1Haw mutation (1 available); any Sftpd mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• homozygotes are viable, fertile, overtly normal and apparently free of viral infections up to 7 months of age

hematopoietic system
• 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)
• 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
• 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)
• 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
• 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
• 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)
• 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
• homozygotes display reduced alveolar epithelial surface area relative to wild-type mice
• 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)
• 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)
• mutant lungs show emphysematous changes including reduced alveolar surface area, thicker alveolar septae, and fewer but larger alveoli relative to wild-type lungs
• homozygotes develop abnormal surfactant phospholipid homeostasis, as shown by progressive accumulation of pulmonary surfactant lipids and altered phospholipid structures
• at 8 weeks, homozygotes exhibit a 2.4- and 6-fold increase in BAL SP-A and SP-B protein levels, respectively

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





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/14/2020
MGI 6.14
The Jackson Laboratory