Gene involved GLB1
Mutation tested c.1647delC
Transmission mode : Autosomal recessive
Publication : Yamoto et al. (2002). A novel mutation in the gene for canine acid beta-galactosidase that causes GM1-gangliosidosis in Shiba dogs.
Gene involved GLB1
Mutation tested c.200G>A
Transmission mode : Autosomal recessive
Publication : Wang et al. (2000). Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis.
Gene involved GLB1
Mutation tested c.1688_1706ins19bp
Transmission mode : Autosomal recessive
Publication : Kreutzer et al. (2005). A Duplication in the Canine ß-Galactosidase Gene GLB1 Causes Exon Skipping and GM1-Gangliosidosis in Alaskan Huskies.