Figure 2

Transgene expression and MLD-like phenotype of transgenic ASA−/− mice. Bars indicate means ± SD. (A) hASA-C69S concentrations in serum of 234 transgenic ASA−/− mice. hASA-C69S was undetectable in eight mice due to serum levels below 0.01 µg/mL. (B) Tissue distribution of hASA-C69S in mice with serum levels between 0.2 and 0.9 µg/mL Tissue and serum levels were normalized on hASA-C69S levels of brain. n = 5. (C) Sulfatide concentration in tissues of six-month-old wildtype control mice (closed bars), non-transgenic ASA−/− mice (open bars) and transgenic ASA−/− mice (hatched bars; hASA-C69S serum level: 0.2–0.9 µg/mL). Sulfatide was quantified by TLC and normalized on the cholesterol concentration. n = 5. (D) Swimming velocity. n = 10. * P< 0.05 compared with wildtype controls. hASA-C69S serum levels of transgenic ASA−/− mice: 0.2–3.1 µg/mL