TABLE 1.

MOUSE MODELS AND HUMAN DISEASE CORRELATES

Mouse Model Abbreviation	Murine Strain and Mutation	Human Disease Correlate	Human: Pulmonary Phenotype	Human Disease: Other Clinical Features	Protein	Rationale for Study
Wild-type (WT)	C57BL/6J	n/a	n/a	n/a	n/a	Wild-type control
WT(GFP)	C57BL/6J ubiquitously expressing GFP (ubiquitin C promoter)	n/a	n/a	n/a	GFP+	Wild-type control for bone marrow transplant experiments
HPS1mt	HPS1 mutations; Naturally occurring (“pale ear” mouse)	HPS-1	Pulmonary fibrosis	Albinism, bleeding, colitis	Novel, BLOC3	Correlate for HPS human genotype most commonly associated with fibrosis
HPS2mt	HPS2 mutations: Naturally occurring inversion-duplication in AP3b1 (“pearl” mouse)	HPS-2	Pulmonary fibrosis	Albinism, bleeding, neutropenia	Adaptor protein AP-3	Correlate for HPS human genotype associated with pulmonary fibrosis; AP-3 most amenable to study
HPS2ko	Targeted knock-out of HPS2 (34)	HPS-2	Pulmonary fibrosis	Albinism, bleeding, neutropenia, HLH	Adaptor protein AP-3	Comparison with HPS2mt, particularly with transgenic correction
HPS3mt	HPS3 mutations; Naturally occurring (“cocoa” mouse)	HPS-3	No pulmonary fibrosis	Albinism, bleeding, colitis	Novel, BLOC2	Correlate for HPS human disease not associated with fibrosis
CHSmt	Lyst/J mutations Naturally occurring (“beige” mouse)	CHS	No pulmonary fibrosis	Recurrent infections	Lyst	Other disease control, not associated with fibrosis
HPS2:TG+	HPS2mt or HPS2ko with transgenic correction of AP3b1 in the lung epithelium	n/a	n/a	n/a	Adaptor protein AP-3	Transgenic model developed

Definition of abbreviations: AP-3 = adaptor protein 3; BLOC = biogenesis of lysosomal organelle complex; CHS = Chediak-Higashi syndrome; GFP = green fluorescent protein; HLH = hemophagocytic lymphohistiocytosis; HPS = Hermansky-Pudlak syndrome; ko = knock-out; mt = mutant; n/a = not applicable.