Gene involved HEXB
Mutation tested c.283delG
Transmission mode : Autosomal recessive
Publication : Rahman et al. (2012). A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease).
Gene involved HEXB
Mutation tested c.618-620delCCT
Transmission mode : Autosomal recessive
Publication : Wang et al. (2018). Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene.
Gene involved HEXA
Mutation tested c.967G>A
Transmission mode : Autosomal recessive
Publication : Sanders et al. (2013). GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease.