Phenotypes Associated with This Genotype

Genotype
MGI:3586968

• Allelic Composition: Ap3b1^pe/Ap3b1^pe; Hps1^ep/Hps1^ep
• Genetic Background: involves: C3H/He * C3HeB/FeJ * C57BL/6J

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

respiratory system

increased lung weight ( J:85431 )

• increased ratio of lung wet weight to body weight

lung inflammation ( J:85431 )

• large numbers of inflammatory cells increasing with age (5.6x normal at 1 year)

• most inflammatory cells in lungs are mononuclear macrophage

abnormal lung epithelium morphology ( J:85431 )

• lung epithelium with large numbers of giant cells containing "foamy" material

abnormal type II pneumocyte morphology ( J:85431 )

• type II cells and lamellar bodies are significantly enlarged

enlarged alveolar lamellar bodies ( J:85431 )

• massive lamellar bodies in type II cells (2.5-4.5 um and rarely to 28 um), engorged with surfactant

abnormal lung interstitium morphology ( J:85431 )

• large open air spaces in the lung parenchyma

emphysema ( J:85431 )

abnormal lung hysteresivity ( J:85431 )

• abnormal respiratory function as determined by in vivo measurement of lung hysteresivity

immune system

abnormal monocyte morphology ( J:85431 )

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

lung inflammation ( J:85431 )

• large numbers of inflammatory cells increasing with age (5.6x normal at 1 year)

• most inflammatory cells in lungs are mononuclear macrophage

hematopoietic system

abnormal monocyte morphology ( J:85431 )

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

growth/size/body

increased lung weight ( J:85431 )

• increased ratio of lung wet weight to body weight

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome 1		DOID:0060539	OMIM:203300	J:85431
Hermansky-Pudlak syndrome 2		DOID:0060540	OMIM:608233	J:85431