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Phenotypes Associated with This Genotype
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phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system
• a marked decrease in elastin content is seen in alveolar regions of 1 year old mutants, with a decrease in the fractional volume area of fibrils within the alveolar walls
• majority of mutants treated with bleomycin at 8-10 weeks of age exhibit emphysematous-like lesions in the lungs with ageing (at 18-24 weeks of age) (J:129959)
• mutants exhibit progressive air space enlargement, showing a progressive increase in the mean linear intercept after 2 months of age, indicating emphysema development (J:136830)
• the increase in mean linear intercept is equal to or greater than that reported in cigarette smoke-exposure model of emphysema (J:136830)

immune system
• mutants do not show airway inflammation
• macrophages exhibit increased gelatinolytic activity
• mutants exhibit a different inflammatory response in the lungs in response to bleomycin than treated wild-type mice, showing a decrease in neutrophils and lymphocytes in bronchoalveolar lavage fluid compared to wild-type mice
• mutants develop less extensive pulmonary fibrosis at 8 weeks after bleomycin instillation than wild-type mice
• hydroxyproline, collagen, IGFBP3 and TIMP1 levels are significantly lower at 8 weeks after bleomycin instillation than wild-type mice

hematopoietic system
• macrophages exhibit increased gelatinolytic activity

Mouse Models of Human Disease
OMIM ID Ref(s)
Emphysema, Hereditary Pulmonary 130700 J:136830

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory