Familial Nephropathy

Gene involved
COL4A4

Mutation tested
c.2712C>T

Transmission mode : Autosomal recessive

Publication : Nowend et al. (2012). Characterization of the genetic basis for autosomal recessive hereditary nephropathy in the English Springer Spaniel.

Concerned breeds :

Gene involved
COL4A4

Mutation tested
c.115A>T

Transmission mode : Autosomal recessive

Publication : Davidson et al. (2007). Genetic cause of autosomal recessive hereditary nephropathy in the English Cocker Spaniel.

Gene involved
COL4A5

Mutation tested
c.3079G>T

Transmission mode : X-linked recessive

Publication : Zheng et al. (1994). Canine X chromosome-linked hereditary nephritis: a genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the alpha 5 chain of collagen type IV.

Concerned breeds :