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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.