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. 2012 Aug 29;135(9):2661–2675. doi: 10.1093/brain/aws209

Figure 1.

Figure 1

Phenotype of Gnptabc.3082insC mice. (A) One-month-old Gnptabc.3082insC mice show reduced body size and skeletal abnormalities like facial dysmorphism and curvature of the spine. (B) Body weight progression of Gnptabc.3082insC mice is reduced compared with wild-type and heterozygous littermates (n = 8, mean ± SD). (C) Kaplan–Meier analysis of male and female wild-type, heterozygous and homozygous Gnptabc.3082insC mice (0–20 weeks: n = 160, 20–40 weeks: n = 70, 40–60 weeks: n = 25). (D) The relative enzyme activities of the lysosomal hydrolases β-hexosaminidase (β-hex), β-galactosidase (β-gal), α-mannosidase (α-man), α-l-fucosidase (α-fuc) and arylsulphatase A (asa) were measured in sera of 6-month-old Gnptabc.3082insC mice. The specific activities of the wild-type were set to 1 (mean ± SD, n = 3, *P < 0.05).