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Copper Toxicosis, COMMD1 Type
Breed: Bedlington Terrier
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
General
Disease Name
Copper Toxicosis, COMMD1 Type
OMIA
1988
Gene Name
COMMD1
Mutation
c.179-36.6kb_458+2.9kbdel39.8k
Mutation 2
deletion "breakpoints were positioned at 65.3091 and 65.3489 Mb of dog chromosome 10, in intron 1 and intron 2 of COMMD1 respectively, a deletion of 39.7 kb"
Test Type
Genetic Disease/Disorder
Details
Wilson's disease, and Copper Toxicosis (COMMD1 type) are hereditary diseases in which failure of the liver to expel dietary copper leads to a build-up of this toxic metal causing illness and death. It should be noted that there can be other, non-hereditary causes of copper built-up. In addition, it is possible there are breed-specific forms of these diseases where the mutations responsible have not yet been identified.
Details 2
A disorder of copper metabolism, due to a deficiency of ceruloplasmin, which forms a complex with copper. The excess copper is deposited in the brain (causing mental retardation) or the liver (causing jaundice and cirrhosis).
Published
Favier, R.P., Spee, B., Schotanus, B.A., van den Ingh, T.S., Fieten, H., Brinkhof, B., Viebahn, C.S., Penning, L.C., Rothuizen, J. : COMMD1-Deficient Dogs Accumulate Copper in Hepatocytes and Provide a Good Model for Chronic Hepatitis and Fibrosis. PLoS One 7:e42158, 2012. Pubmed reference: 22879914. DOI: 10.1371/journal.pone.0042158.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Bedlington Terrier
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
COMMD1
Mutation
deletion "breakpoints were positioned at 65.3091 and 65.3489 Mb of dog chromosome 10, in intron 1 and intron 2 of COMMD1 respectively, a deletion of 39.7 kb"
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
COMMD1
Mutation
deletion "breakpoints were positioned at 65.3091 and 65.3489 Mb of dog chromosome 10, in intron 1 and intron 2 of COMMD1 respectively, a deletion of 39.7 kb"
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
COMMD1
Mutation
deletion "breakpoints were positioned at 65.3091 and 65.3489 Mb of dog chromosome 10, in intron 1 and intron 2 of COMMD1 respectively, a deletion of 39.7 kb"
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
COMMD1
Mutation
deletion "breakpoints were positioned at 65.3091 and 65.3489 Mb of dog chromosome 10, in intron 1 and intron 2 of COMMD1 respectively, a deletion of 39.7 kb"
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Copper Toxicosis
GTP Disease Synonym
Wilson-like Disease
Gene Name
COMMD1
Mutation
deletion "breakpoints were positioned at 65.3091 and 65.3489 Mb of dog chromosome 10, in intron 1 and intron 2 of COMMD1 respectively, a deletion of 39.7 kb"
Nature of test
mutation test
GTP- or Breed-Specific Publications
Favier, R.P., Spee, B., Schotanus, B.A., van den Ingh, T.S., Fieten, H., Brinkhof, B., Viebahn, C.S., Penning, L.C., Rothuizen, J. : COMMD1-Deficient Dogs Accumulate Copper in Hepatocytes and Provid
Inheritance
AR
GTP Notes
Not currently available
FCI Number
9
GTP Breed
Bedlington Terrier
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Copper Toxicosis
GTP Disease Synonym
Wilson-like Disease
Gene Name
COMMD1
Mutation
39,7 kb deletion
Nature of test
mutation test
FCI Number
9
GTP Breed
Bedlington Terrier
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
COMMD1
Mutation
deletion "breakpoints were positioned at 65.3091 and 65.3489 Mb of dog chromosome 10, in intron 1 and intron 2 of COMMD1 respectively, a deletion of 39.7 kb"
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
COMMD1
Mutation
deletion "breakpoints were positioned at 65.3091 and 65.3489 Mb of dog chromosome 10, in intron 1 and intron 2 of COMMD1 respectively, a deletion of 39.7 kb"
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Copper Toxicosis
GTP Disease Synonym
Wilson-like Disease
Gene Name
COMMD1
Mutation
deletion "breakpoints were positioned at 65.3091 and 65.3489 Mb of dog chromosome 10, in intron 1 and intron 2 of COMMD1 respectively, a deletion of 39.7 kb"
Nature of test
mutation test
GTP- or Breed-Specific Publications
Favier, R.P., Spee, B., Schotanus, B.A., van den Ingh, T.S., Fieten, H., Brinkhof, B., Viebahn, C.S., Penning, L.C., Rothuizen, J. : COMMD1-Deficient Dogs Accumulate Copper in Hepatocytes and Provid
Inheritance
AR
FCI Number
9
GTP Breed
Bedlington Terrier
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
COMMD1
Mutation
deletion "breakpoints were positioned at 65.3091 and 65.3489 Mb of dog chromosome 10, in intron 1 and intron 2 of COMMD1 respectively, a deletion of 39.7 kb"
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
COMMD1
Mutation
deletion "breakpoints were positioned at 65.3091 and 65.3489 Mb of dog chromosome 10, in intron 1 and intron 2 of COMMD1 respectively, a deletion of 39.7 kb"
Animal Genetics Laboratory, SLU
GTP
GTP Name
Animal Genetics Laboratory SLU
Breed
OMIA
GTP Disease Name
Copper Toxicosis
GTP Disease Synonym
Wilson-like Disease
Gene Name
COMMD1
Mutation
deletion "breakpoints were positioned at 65.3091 and 65.3489 Mb of dog chromosome 10, in intron 1 and intron 2 of COMMD1 respectively, a deletion of 39.7 kb"
Nature of test
mutation test
FCI Number
9
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
COMMD1
Mutation
deletion "breakpoints were positioned at 65.3091 and 65.3489 Mb of dog chromosome 10, in intron 1 and intron 2 of COMMD1 respectively, a deletion of 39.7 kb"
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
Wilson-like Disease
Gene Name
COMMD1
Mutation
deletion "breakpoints were positioned at 65.3091 and 65.3489 Mb of dog chromosome 10, in intron 1 and intron 2 of COMMD1 respectively, a deletion of 39.7 kb"
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
COMMD1
Mutation
deletion "breakpoints were positioned at 65.3091 and 65.3489 Mb of dog chromosome 10, in intron 1 and intron 2 of COMMD1 respectively, a deletion of 39.7 kb"
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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