Table 1.

Mouse models of metabolic disease.

Disease	Genotype	Deficient Enzyme	Accumulating Substrate(s)	Storage/Symptom Onset (Months)	Lifespan (Months)	Age @ Sacrifice (Months)	References
Gaucher	GbaD409V/D409V	Glucocerebrosidase	glucosylceramide, glucosylsphingosine	2	18–24	12	(Xu et al., 2003; Sardi et al., 2011)
Fabry	Agal-/-	α-galactosidase	Globotriaosylceramide	1–2	18–24	8–9	(Bangari et al., 2015)
Sandhoff	HexB-/-	β-hexosaminidase	Ganglioside GM2	3–4	5	2–3 & 4–5	(Sango et al., 1995; Cachon-Gonzalez et al., 2006)
NPA	Smpd1-/-	Acid Sphingomyelinase	Sphingomyelin, cholesterol	1–2	7	4–5	(Horinouchi et al., 1995)
Hurler	IduaW392X/W392X	α-L-iduronidase	Mucopolysaccharides	<1	10–20	4 & 7	(Wang et al., 2010)
Pompe	Gaa-/-	α-glucosidase	Glycogen	1–2	18–24	3–4	(Raben et al., 1998)
NPC	Npc1-/-	N/A-molecular transporter deficiency	Cholesterol	1–2	3	1 & 2	(Morris et al., 1982)

Abbreviations: NPA = Niemann Pick A, NPC = Niemann Pick C.