Mouse Genome Informatics
cx
    Ap3b1pe/Ap3b1pe
Hps1ep/Hps1ep

involves: C3H/He * C3HeB/FeJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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

Mouse Models of Human Disease
OMIM IDRef(s)
Hermansky-Pudlak Syndrome 1; HPS1 203300 J:85431
Hermansky-Pudlak Syndrome 2; HPS2 608233 J:85431