Glentress Captain at OR Trail has two healthy alleles at NHEJ1. Keep in mind that eyesight can deteriorate with age for non-genetic causes: please
consult with your veterinarian for a long term health and monitoring plan as your pup gets older.
Collie Eye Anomaly, Choroidal Hypoplasia
NHEJ1 (Intron 4)
Named for its high prevalence in Collie dogs, Collie Eye Anomaly (CEA) is more correctly termed choroidal hypoplasia and is a developmental
disease of the choroid. The choroid anchors the retina to the underlying structures and supplies it with oxygen and nourishment. In CEA, more
correctly known as choroidal hypoplasia, the choroid is underdeveloped, with thin, pale, and nearly transparent patches upon ophthalmic
examination. In mild cases of CEA, choroidal thinning may be the only detectable sign of the disease. In severe cases, this thinning is so dramatic
that a coloboma, outpouching of the retina due to poor choroidal support, can occur. This can lead to retinal detachment and blindness. It is
important to note that both mild and severe forms of CEA arise from the same autosomal recessive mutation in the NHEJ gene, and that dogs with
mild CEA can produce pups with severe CEA.
NEURONAL CEROID LIPOFUSCINOSIS 1
Glentress Captain at OR Trail has two healthy alleles at CLN5.
Neuronal Ceroid Lipofuscinosis 1
(CLN5 Border Collie Variant)
CLN5 (Exon 4)
This form of lysosomal storage disease can cause juvenile to adult-onset neurologic signs, depending on the affected gene. While lipofuscin is
commonly observed in the tissues of aged animals, dogs with NCL show an inappropriate accumulation of lipofuscin in the cells of the retina and
the brain as early as 6 months and as late as 6 years, depending on the gene affected. Common symptoms reflect central nervous system
malfunction and include partial or total vision loss, behavior changes, abnormal gait, and seizures. Symptoms usually progress slowly over time.
While gene therapy trials in mouse models have proven promising, these are far from being used in the clinic.
A mutation in the CLN5 gene was first identified in Border Collies with NCL. CLN5 codes for a protein important for the function of other lysosomal
enzymes. Border collies with NCL are reported to develop neurologic signs as early as 15 months of age; however, this can vary between
individual dogs, as can symptom severity.
TRAPPED NEUTROPHIL SYNDROME
Glentress Captain at OR Trail has two healthy alleles at VPS13B.
Trapped Neutrophil Syndrome
VPS13B Exon 19
Dogs with TNS are prone to recurrent bacterial infections that must be recognized and treated early. Neutrophils, a type of white blood cells, are
generated in the bone marrow and, after an appropriate time to mature, enter the circulation. The neutrophils of dogs with TNS never fully
mature, but remained “trapped” in various stages of immaturity in the bone marrow. Neutrophils are the first cells to arrive at a site of infection or
inflammation, causing increased susceptibility to infections. They also have characteristic facial abnormalities including a narrow, elongated skull
(described as “ferret-like”) and are often smaller than unaffected littermates. The severity of TNS can vary: some pups are brought to the vet
within weeks for recurrent infections and failure to thrive, others are only diagnosed after reactions to the first set of vaccinations, and others go
undiagnosed for years after treatment for mild recurrent infections. Current treatment for TNS focuses on keeping infections at bay.
MDR1 DRUG SENSITIVITY
Glentress Captain at OR Trail has two healthy alleles at MDR1 and would be expected to exhibit normal drug reactions. Please note that a
percentage of dogs without the MDR1 mutation still exhibit side effects to some medications; for flea, tick, and heartworm preventatives, the most
common side effects are lethargy and nausea. If Glentress Captain at OR Trail is exhibiting these side effects, please consult with your
veterinarian to discuss different preventative options.
MDR1 Drug Sensitivity
DD , ND
Sensitivity to certain classes of drugs, notably the parasiticide ivermectin, as well as certain gastroprotectant and anti-cancer medications, occurs
in dogs with mutations in the MDR1 gene. Symptoms can range from vomiting and diarrhea to lethargy, seizures, or coma. MDR1 mutations are
particularly common in herding breeds including Australian Shepherds, Collies, and Border Collies, though many other dog breeds are affected.
Please note that the dosage of problem drugs in commercially available heartworm, flea, and tick preventatives should not cause symptoms in
|DNA Test Results for
|WILSONG BORDER COLLIES WWW.WILSONGBORDERCOLLIES.COM
ROBERT, LOUISIANA USA PHONE 985 542 2039 EMAIL