Copper Storage Disease
Affected Genes: COMMD1
Inheritance: Autosomal Recessive
Variant(canFam6):
chr10:61819045-61819163: >
Breed: Bedlington Terrier
General Information:
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information:
References:
Forman OP, Boursnell ME, Dunmore BJ, Stendall N, van den Sluis B, Fretwell N, Jones C, Wijmenga C, Rothuizen J, van Oost BA, Holmes NG, Binns MM, Jones P. Characterization of the COMMD1 (MURR1) mutation causing copper toxicosis in Bedlington terriers. Anim Genet. 2005 36(6):497-501.
Hyun C, Filippich LJ. Inherited canine copper toxicosis in Australian Bedlington Terriers. J Vet Sci. 2004 5(1):19-28.
Lee SA, Fillipich LJ, Hyun C. Prevalence of the exon 2 deletion of the COMMD1 gene in Australian Bedlington terriers. J Genet. 2007 86(3): 289-291.
Owen et al. Inherited copper toxicosis in Bedlington Terriers: Wilson’s disease (hepatolenticular degeneration). Am. J. Path. 1982 Mar; 106(3): 432-434.
Van de Sluis B, Rothuizen J, Pearson PL, van Oost BA, Wijmenga C. Identification of a new copper metabolism gene by positional cloning in a purebred dog population. Hum Mol Genet. 2002 11(2):165-173.