The genotypic, anatomical and immunohistochemistry characterization of α-GalA KO mice.

The specific primers amplified bands of 295 bp for α-GalA(+/+) WT and 202 bp for α-GalA(−/−) and α-GalA(−/0) KO. In case of founders females the heterozygosity was confirmed by PCR amplification of both WT and KO bands (A). The body weight of Fabry males was significantly increased just after 8 weeks (n = 15 for WT, n = 20 for KO; p = 0.0111). This trend was maintained and even increased after 12 week of age (n = 10 for WT, n = 5 for KO; p = 0.0023). Data are presented as fold of body weight increase in KO males related to the mean of WT males (B). Hematoxylin-eosin staining of 12 µm frozen frontal paws sections (C). Immunohistochemistry of frontal paw sections clearly shows the accumulation of globotriaosylceramide (Gb3; red) in the epidermis and stratum corneum of KO in comparison to WT mice (D). Scale bar represents 100 µm. Graphical data are expressed as mean±SEM.