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Phenotypes Associated with This Genotype
Genotype
MGI:3586968
Allelic
Composition
Ap3b1pe/Ap3b1pe
Hps1ep/Hps1ep
Genetic
Background
involves: C3H/He * C3HeB/FeJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ap3b1pe mutation (4 available); any Ap3b1 mutation (57 available)
Hps1ep mutation (7 available); any Hps1 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system
• large numbers of inflammatory cells increasing with age (5.6x normal at 1 year)
• most inflammatory cells in lungs are mononuclear macrophage
• lung epithelium with large numbers of giant cells containing "foamy" material
• type II cells and lamellar bodies are significantly enlarged
• massive lamellar bodies in type II cells (2.5-4.5 um and rarely to 28 um), engorged with surfactant
• large open air spaces in the lung parenchyma
• increased ratio of lung wet weight to body weight
• abnormal respiratory function as determined by in vivo measurement of lung hysteresivity

immune system
• mononuclear macrophage are of normal size at 8-15 weeks of age but enlarged at 1 year and containing foamy material
• large numbers of inflammatory cells increasing with age (5.6x normal at 1 year)
• most inflammatory cells in lungs are mononuclear macrophage

hematopoietic system
• mononuclear macrophage are of normal size at 8-15 weeks of age but enlarged at 1 year and containing foamy material


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory