Blood
test available for hereditary myotonia in Australian Cattle
Dogs
Posted
June 22, 2006
See
below for blood test information.
Click here to see videos
of an affected dog. (Images
and name of dog used with permission of the owner)
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Funded in part by a pilot grant from the Morris Animal Foundation,
we have identified a novel mutation
in the skeletal muscle chloride channel gene CLCN1 in
a myotonic Australian Cattle Dog (Finnigan
et al., 2007). This is the second CLCN1 mutation
to be identified in myotonic dogs, the first having been reported
by George and colleagues in myotonic Miniature Schnauzers (2).
Hereditary myotonia in "fainting" goats (3) and most
affected humans (4) is also caused by mutations in CLCN1.
Whereas >80 mutations of this gene have been identified in
different human myotonia families, the dog is the first domestic
animal species in which more than one myotonia mutation has
been found, and more are likely to be identified in other breeds. |
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With funding from the Ontario
Veterinary College's Pet Trust we have developed a
DNA-based whole blood test for the Australian Cattle Dog
CLCN1 mutation. This test is available through
the University of Guelph's Animal Health Laboratory (AHL).
Because the cattle dog mutation appears to be recessive, dogs
inheriting 2 copies of the defective allele would develop
myotonia whereas dogs inheriting one copy would be 'carriers'
who are unaffected but who would pass the mutated allele on
to approximately 50% of their offspring. It is therefore advisable
for breeding dogs to be screened. Veterinarians should contact
the AHL (see below) before submitting whole blood samples
for testing. The Animal Health Laboratory at the University
of Guelph is an ISO-certified facility. All proceeds from
this test will be used to continue our research on animal
diseases.
The blood test costs CDN$85. Please contact the AHL for shipping
information and exact pricing:
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Animal
Health Laboratory contact information
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Telephone: 519-824-4120
ext 54502
Fax: 519-821-8072
Web: http://www.labservices.uoguelph.ca/units/ahl/
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Courier
Address:
Animal
Health Laboratory
University of Guelph
Door P2, Bldg. 49, McIntosh Lane
Guelph, Ontario, N1G 2W1, Canada
(Prepaid
courier number for Ontario only: 0966901)
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This
project was the subject of graduate student Dan Finnigan's
Master's thesis (5). Summer research student Alex Folkl worked
on the development of the blood test, and research student
Paul Mangat participated in the cloning in F2005. For further
information please contact Dr. Brad Hanna.
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References
(1) Finnigan et al. 2007, JVIM 21:458-463.
(2) Rhodes et al. 1999, FEBS Letters 456:54-58.
(3) Beck et al. 1996, PNAS 93:11248-11252.
(4) Colding-Jorgensen 2005, Muscle & Nerve 32:19-34.
(5) Finnigan 2005, MSc Thesis, University of Guelph.
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Last
updated Dec 21, 2007
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