Genetic
Disease
& Cancer

We cannot guarantee your dog will never develop an illness, disease or cancer. 

We can say "We tried" to produce a happy and healthy puppy for your family!

We love dogs!  We use many different sites for our Genetic Testing!

We do the best we can as your Breeder!

All we ask is that you give this puppy the best possible life!

It won’t be long enough.  We can promise you that.

- Kansas Border Collies

Below you will find the Genetic Diseases we test our Border Collies for and more about the individual diseases themselves!

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Collie Eye Anomaly (CEA)

Common Symptoms

Collie Eye Anomaly (CEA), also known as choroidal hypoplasia (CH), is an inherited disease affecting several dog breeds including border collies. The choroid is the layer of tissue in the eye responsible for supplying blood and nutrients to the Retina. In dogs affected with CEA, the choroid does not develop properly and is therefore thinner than normal. The severity of the condition can vary from dog to dog. In mild cases, affected dogs may only show signs of collie eye anomaly on eye exam between about 5 and 12 weeks of age, just prior to normal, age-related pigmentation of the retina which often masks the characteristic, disease-related changes. After this time period, mildly affected dogs may be impossible to distinguish from normal dogs on eye exam (a phenomenon often referred to as “going normal”) and may not display obvious vision deficits. In more severely affected dogs, clinical signs include malformations of the eye and/or optic nerve (colobomas), retinal detachment, intraocular bleeding, and subsequent blindness. Both mild and severe forms of CEA are associated with the same NHEJ1 gene Mutation. Therefore, predicting the potential severity of the disease in an affected puppy is difficult as mildly affected parents may produce offspring that are severely affected.

Breed-Specific Information for the Border Collie

The Mutation of the NHEJ1 gene associated with collie eye anomaly has been identified in the border collie. Though the frequency of the gene mutation in the overall border collie population is unknown, in one study the disease prevalence in the United States, Great Britain and Switzerland was estimated to be 1-3%.

Testing Tips

Genetic testing of the NHEJ1 gene in border collies will reliably determine whether a dog is a genetic Carrier of collie eye anomaly. Collie Eye Anomaly is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the NHEJ1 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Border collies that are not carriers of the mutation have no increased risk of having affected pups.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

References

www.pawprintgenetics.com

  • Brown EA, Thomasy SM, Murphy CJ, Bannasch DL. Genetic analysis of optic nerve head coloboma in the Nova Scotia Duck Tolling Retriever identifies discordance with the NHEJ1 intronic deletion (collie eye anomaly mutation). Vet Ophthalmol. 2017 Jul 12. doi: 10.1111/vop.12488. [PubMed: 28702949]
  • Lowe JK, Kukekova AV, Kirkness EF, Langlois MC, Aguirre GD, Acland GM, Ostrander EA. Linkage mapping of the primary disease locus for collie eye anomaly. Genomics. 2003 Jul;82(1):86-95. [PubMed: 12809679]
  • Midshires Bearded Collie Club. [Internet]. Statement on Collie Eye Anomaly in Bearded Collies from the Joint Breed Liaison Committee – December 2013. 21 Feb 2014 [cited 13 June 2014]. Available at http://midshiresbeardedcollieclub.com/Health-Issue-Press-Releases-from-the-Kennel-Club
  • Mizukami K, Chang HS, Ota M, Yabuki A, Hossain MA, Rahman MM, Uddin MM, Yamato O. Collie eye anomaly in Hokkaido dogs: case study. Vet Ophthalmol. 2012 Mar;15(2):128-32. [PubMed: 22051190]
  • Munyard KA, Sherry CR, Sherry L. A retrospective evaluation of congenital ocular defects in Australian Shepherd dogs in Australia. Vet Ophthalmol. 2007 Jan-Feb;10(1):19-22. [PubMed: 17204124]
  • Walser-Reinhardt L, Hassig M, Spiess B. Schweiz Arch Tierheilkd. Collie Eye Anomaly in Switzerland. 2009 Dec;151(12):597-603. [PubMed: 19946851]


Degenerative Myelopathy

Common Symptoms

Degenerative Myelopathy is an inherited neurologic disorder caused by a Mutation of the SOD1 gene known to be carried by border collies. This mutation is found in many breeds of dog, though it is not clear for border collies whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the White Matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle Atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs, such as the border collie, can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs.

Breed-Specific Information for the Border Collie

The Mutation of the SOD1 gene associated with degenerative myelopathy has been identified in the border collie. The overall frequency of this disease in the breed and approximate age of disease onset are unreported for border collies. However, in one study of 80 Border collies tested, 8.8% were carriers and 12.5% were at-risk.

Testing Tips

Genetic testing of the SOD1 gene in border collies will reliably determine whether a dog is a genetic Carrier of degenerative myelopathy. Degenerative Myelopathy is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the SOD1 gene mutation. Reliable genetic testing is important for determining breeding practices. Because symptoms may not appear until adulthood and some at-risk/affected dogs do not develop the disease, genetic testing should be performed before breeding. Until the exact modifying environmental or genetic factor is determined, genetic testing remains the only reliable way to detect neurological disease associated with this mutation prior to death. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Border collies that are not carriers of the mutation have no increased risk of having affected pups.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

References

www.pawprintgenetics.com

  • Awano T, Johnson GS, Wade CM, Katz ML, Johnson GC, Taylor JF, Perloski M, Biagi T, Baranowska I, Long S, March PA, Olby NJ, Shelton GD, Khan S, O'Brien DP, Lindblad-Toh K, Coates JR. Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A. 2009 Feb 24; 106(8):2794-9. [PubMed: 19188595]
  • Coates JR, March PA, Oglesbee M, Ruaux CG, Olby NJ, Berghaus RD, O'Brien DP, Keating JH, Johnson GS, Williams DA. Clinical characterization of a familial degenerative myelopathy in Pembroke Welsh Corgi dogs. J Vet Intern Med. 2007 Nov-Dec; 21(6):1323-31. [PubMed: 18196743]
  • Coates JR, Wininger FA. Canine degenerative myelopathy. Vet Clin North Am Small Anim Pract. 2010 Sep; 40(5):929-50. [PubMed: 20732599]
  • Miller AD, Barber R, Porter BF, Peters RM, Kent M, Platt SR, Schatzberg SJ. Degenerative myelopathy in two Boxer dogs. Vet Pathol. 2009 Jul; 46(4):684-7. [PubMed: 19276068]
  • Shaffer LG, Ramirez CJ, Sundin K, Carl C, Ballif BC (2015) Genetic screening and mutation identification in a rare canine breed, the Drentsche patrijshond. Vet Rec Case Rep. 3:e000185.
  • Shaffer LG, Ramirez CJ, Sundin K, Connell LB, Ballif BC (2016) Genetic screening and mutation identification in a rare canine breed, the Cesky fousek. Vet Rec Case Rep. 4:e000346.
  • Shelton GD, Johnson GC, O’Brien DP, Katz ML, Pesayco JP, Chang BJ, Mizisin AP, Coates JR. Degenerative myelopathy associated with a missense mutation in the superoxide dismutase 1 (SOD1) gene progresses to peripheral neuropathy in Pembroke Welsh Corgis and Boxers. J Neurol Sci. 2012 Jul 15;318(1-2):55-64. [PubMed: 22542607]
  • Zeng R, Coates JR, Johnson GC, Hansen L, Awano T, Kolicheski A, Ivansson E, Perloski M, Lindblad-Toh K, O'Brien DP, Guo J, Katz ML, Johnson GS. Breed Distribution of SOD1 Alleles Previously Associated with Canine Degenerative Myelopathy. J Vet Intern Med. 2014 Feb 13. doi: 10.1111/jvim.12317. [PubMed: 24524809]


Intestinal cobalamin malabsorption


Common Symptoms

Intestinal cobalamin malabsorption (border collie type) is an inherited disease affecting border collies. Affected dogs are unable to make adequate amounts of a protein that plays a role in absorption of certain nutrients from the intestinal tract and kidneys, including the B vitamin, cobalamin. Affected dogs have increased levels of methylmalonic acid in their urine (a sign of cobalamin deficiency) from as early as 14 weeks of age, but symptoms of disease may not be recognized by owners for months or years. Symptoms of disease include anorexia, lethargy, poor weight gain, poor muscle mass, and in rare circumstances, a severe neurological dysfunction called hepatic encephalopathy that can lead to altered mental state, seizures, coma and death. Affected dogs have an increase in certain proteins in their urine, and have decreased synthesis of blood cells resulting in Anemia and decreased numbers of neutrophils. Affected dogs require cobalamin supplementation for life that results in disease remission for most animals within a few weeks. Though not associated with clinical disease, affected dogs will continue to pass increased amounts of certain proteins in the urine even with cobalamin supplementation.

Breed-Specific Information for the Border Collie

The Mutation of the CUBN gene associated with intestinal cobalamin malabsorption (border collie type) has been identified in the border collie. Though the exact frequency in the overall border collie population is unknown, 6.3% out of 95 clinically normal border collies were found to be carriers of the mutation.

Testing Tips

Genetic testing of the CUBN gene in border collies will reliably determine whether a dog is a genetic Carrier of intestinal cobalamin malabsorption (border collie type). Intestinal cobalamin malabsorption (border collie type) is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the CUBN gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Border collies that are not carriers of the mutation have no increased risk of having affected pups.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

References

www.pawprintgenetics.com

  • Fyfe JC, Hemker SL, Venta PJ, Fitzgerald CA, Outerbridge CA, Myers SL, Giger U. An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Grasbeck syndrome in dogs. Mol Genet Metab. 2013 Aug;109(4):390-6. doi: 10.1016/j.ymgme.2013.05.006. Epub 2013 May 22. [PubMed: 23746554]


MDR1


Common Symptoms

Multidrug Resistance 1, also called MDR1, is an inherited condition affecting several breeds of dogs, especially herding dogs such as the border collie. The Mutation in the ABCB1 gene associated with MDR1 causes dysfunction of P-glycoprotein, which is responsible for removing certain drugs and toxins from the body. Clinical signs are most commonly associated with distribution of the drug in the central nervous system. MDR1 is inherited in an autosomal incomplete dominant manner in dogs meaning that dogs only need to inherit one copy of the mutated gene to be at an increased risk of developing adverse reactions to certain medications. Though adverse reactions to certain drugs are most commonly seen in dogs having two copies of the mutated gene, Carrier dogs can also experience drug sensitivities and dosages need to be adjusted accordingly. Thus, dogs that have one or two copies of the mutation are considered at-risk for adverse drug reactions. If an at-risk dog is treated with one of several common drugs (see below*), they are at risk of developing neurologic symptoms that could range from tremors, excess salivation, anorexia, and blindness to coma and even death. Because of the defective ability to metabolize specific drugs, these drugs can be lethal even at low doses. The MDR1 mutation does not cause adverse effects in dogs unless the dog is exposed to these drugs. Therefore, veterinarians should be notified when a dog is at risk for multidrug resistance 1 prior to administration of any medications.


*Drugs known to cause neurological signs related to the MDR1 mutation:

Acepromazine, butorphanol, doxorubicin, emodepside, erythromycin, ivermectin, loperamide, milbemycin, moxidectin, rifampin, selamectin, vinblastine and vincristine


In addition to this list, there are many other drugs known to be removed from the central nervous system via the P-glycoprotein mechanism in humans. However, reports of neurological dysfunction related to drugs other than those listed here are scarce in dogs. Please consult your veterinarian prior to giving drugs to known multidrug resistance 1 carriers, affected dogs, or untested dogs of breeds commonly affected with this condition.

Breed-Specific Information for the Border Collie

The Mutation of the ABCB1 gene associated with multidrug resistance 1 has been identified in the border collie. Though the exact frequency in the overall border collie population is unknown, in North America 1.3% out of 306 border collies had one copy of the mutation and 0.3% had two copies of the mutation, with an overall frequency of at risk dogs of 1.6%. In Europe, none of the 116 Border Collies tested in one study had inherited the mutation. Worldwide, the percentage of border collies which inherited one copy of the mutation ranged from 0% to 5% and the percentage of the breed which inherited two copies of the mutation associated with MDR1 ranged from 0% to 0.4%.

Testing Tips

Genetic testing of the ABCB1 gene in border collies will reliably determine whether a dog is a genetic Carrier of multidrug resistance 1. Multidrug Resistance 1 is inherited in an autosomal incomplete dominant manner in dogs meaning that dogs only need to inherit one copy of the mutated gene to be at an increased risk of developing the disease. Though adverse reactions to certain drugs are most commonly seen in dogs having two copies of the mutated gene, carrier dogs can also experience drug sensitivities and dosages need to be adjusted accordingly. Thus, dogs that have one or two mutant copies of the gene are considered at-risk for adverse drug reactions. When carriers of this Mutation are bred with another dog that also is a carrier of the same mutation, there is risk of having affected pups. For each pup that is born to this pairing, there is a 25% chance that the puppy will inherit two copies of the mutation and a 50% chance that the puppy will inherit one copy of the mutation and, in either case, may be susceptible to having adverse drug reactions. Reliable genetic testing is important for determining breeding practices. Because symptoms do not appear unless dogs are exposed to certain drugs, genetic testing should be performed before breeding. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers is not recommended. Border collies that are not carriers of the mutation have no increased risk of having affected pups when bred to a dog that is also clear for this mutation.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

References

www.pawprintgenetics.com

  • Alves L, Hulsmeyer V, Jaggy A, Fischer A, Leeb T, Drogemuller M. Polymorphisms in the ABCB1 gene in phenobarbital responsive and resistant idiopathic epileptic border collies. J Vet Intern Med. 2011 May-Jun;25(3):484-9. [PubMed: 21488961]
  • Barbet JL, Snook T, Gay JM, Mealey KL. ABCB1-1 Delta (MDR1-1 Delta) genotype is associated with adverse reactions in dogs treated with milbemycin oxime for generalized demodicosis. Vet Dermatol. 2009 Apr;20(2):111-4. [PubMed: 19171022]
  • Donner J, Kaukonen M, Anderson H, Moller F, Kyostila K, Sankari S, Hytonen M, Giger U, Lohi H. Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One. 2016 Aug 15;11(8):e0161005. [PubMed: 27525650]
  • Firdova Z, Turnova E, Bielikova M, Turna J, Dudas A. The prevalence of ABCB1:c.227_230delATAG mutation in affected dog breeds from European countries. Res Vet Sci. 2016 Jun;106:89-92. [PubMed: 27234542]
  • Geyer J, Klintzsch S, Meerkamp K, Wohlke A, Distl O, Moritz A, Petzinger E. Detection of the nt230(del4) MDR1 mutation in White Swiss Shepherd dogs: case reports of doramectin toxicosis, breed predisposition, and microsatellite analysis. J Vet Pharmcol Ther. 2007 Oct;30(5):482-485. [PubMed: 17803743]
  • Gramer I, Leidolf R, Doring B, Klintzsch S, Kramer E, Yalcin E, Petzinger E, Geyer J. Breed distribution of the nt230(del4) MDR1 mutation in dogs. Vet J. 2011 Jul;189(1):67-71. [PubMed: 20655253]
  • Mealey KL, Bentjen SA, Gay JM, Cantor GH. Ivermectin sensitivity in collies is associated with a deletion mutation of the mdr1 gene. Pharmacogenetics. 2001 Nov; 11(8):727-33. [PubMed: 11692082]
  • Mealey KL, Meurs KM. Breed distribution of the ABCB1-1delta (multidrug sensitivity) polymorphism among dogs undergoing ABCB1 genotyping. J Am Vet Med Assoc. 2008 Sep 15;233(6):921-4. [PubMed: 18795852]
  • Mizukami K, Chang H, Yabuki A, Kawamichi T, Hossain MA, Rahman MM, Uddin MM, Yamato O. Rapid genotyping assays for the 4-base pair deletion of canine MDR1/ABCB1 gene and low frequency of the mutant allele in border collie dogs. J Vet Diagn Invest. 2012 Jan;24(1):127-34. [PubMed: 22362942]
  • Neff MW, Robertson KR, Wong AK, Safra N, Broman KW, Slatkin M, Mealey KL, Pedersen NC. Breed distribution and history of canine mdr1-1delta, a pharmacogenetic mutation that marks the emergence of breeds from the collie lineage. Proc Natl Acad Sci U S A. 2004 Aug 10;101(32):11725-30. [PubMed: 15289602]
  • Nelson OL, Carsten E, Bentjen SA, Mealey KL. Ivermectin toxicity in an Australian shepherd dog with the MDR1 mutation associated with ivermectin sensitivity in collies. J Vet Intern Med. 2003 May-Jun;17(3):354-6. [PubMed: 12774979]



neuronal ceroid lipofuscinosis


Common Symptoms

Neuronal Ceroid Lipofuscinosis 5 (NCL5) is lysosomal storage disease affecting Border Collies. Affected dogs lack adequate activity of a specific Enzyme necessary for normal cellular metabolism. As a result, there is an abnormal accumulation of waste compounds primarily in the cells of the nervous system, leading to a range of nervous system disorders. Affected dogs typically present between 15 and 20 months of age with signs of neurologic disease. Symptoms initially include behavioral changes, non-responsiveness to commands, loss of interest in play or other dogs, irrational fears, hallucinations, disorientation and aggression. Symptoms become more frequent and severe over time and may include Ataxia, falling, seizures, aimless wandering, abnormal gait, lethargy, and vision loss. Dogs with this disease rarely live beyond 32 months of age.

Breed-Specific Information for the Border Collie

The Mutation of the CLN5 gene associated with neuronal ceroid lipofuscinosis 5 has been identified in the Border Collie. Though the exact frequency in the overall Border Collie population is unknown, 8.1% out of 407 Border Collies from Japan were carriers of the mutation.

Testing Tips

Genetic testing of the CLN5 gene in Border Collies will reliably determine whether a dog is a genetic Carrier of neuronal ceroid lipofuscinosis 5. Neuronal Ceroid Lipofuscinosis 5 is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the CLN5 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Border Collies that are not carriers of the mutation have no increased risk of having affected pups.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

References

www.pawprintgenetics.com

  • Melville SA, Wilson CL, Chiang CS, Studdert VP, Lingaas F, Wilton AN. A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. Genomics. 2005 Sep; 86(3):287-94. [PubMed: 16033706]
  • Mizukami K, Chang HS, Yabuki A, Kawamichi T, Kawahara N, Hayashi D, Hossain MA, Rahman MM, Uddin MM, Yamato O. Novel rapid genotyping assays for neuronal ceroid lipofuscinosis in Border Collie dogs and high frequency of the mutant allele in Japan. J Vet Diagn Invest. 2011 Nov; 23(6):1131-9. [PubMed: 22362793]
  • Mizukami K, Kawamichi T, Koie H, Tamura S, Matsunaga S, Imamoto S, Saito M, Hasegawa D, Matsuki N, Tamahara S, Sato S, Yabuki A, Chang HS, Yamato O. Neuronal ceroid lipofuscinosis in Border Collie dogs in Japan: clinical and molecular epidemiological study (2000-2011). ScientificWorldJournal. 2012;2012:383174. Epub 2012 Jul 31. [PubMed: 22919312]



sensory neuropathy


Common Symptoms

Sensory neuropathy is a progressive neurological disease affecting Border collies. Affected dogs present between two and seven months of age with clinical signs including Ataxia, abnormal gait, muscle Atrophy, knuckling of the paws, and hyperextended limbs. Urinary incontinence and regurgitation may occur as the disease progresses. Affected dogs lose feeling in all limbs and develop an inability to recognize the position of their limbs in space. Hind limbs tend to be more severely affected than front limbs. Affected dogs will often chew on their lower limbs and feet as they lose feeling, resulting in severe wounds. Affected dogs are often euthanized within 18 months of diagnosis due to quality of life concerns.

Breed-Specific Information for the Border Collie

The Mutation of the FAM134B gene associated with sensory neuropathy has been identified in the border collie, although its overall frequency in this breed is unknown.

Testing Tips

Genetic testing of the FAM134B gene in border collies will reliably determine whether a dog is a genetic Carrier of sensory neuropathy. Sensory neuropathy is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the FAM134B gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Border collies that are not carriers of the mutation have no increased risk of having affected pups.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

References

  • Forman OP, Hitti RJ, Pettitt L, Jenkins CA, O’Brien DP, Shelton GD, Risio LD, Quintana RG, Beltran E, Cathryn Mellersh. An inversion disrupting FAM134B is associated with sensory neuropathy in the Border Collie dog breed. G3 (Bethesda). 2016 Sep 8;6(9):2687-92. [PubMed: 275277974]


Common Symptoms

Sensory neuropathy is a progressive neurological disease affecting Border collies. Affected dogs present between two and seven months of age with clinical signs including Ataxia, abnormal gait, muscle Atrophy, knuckling of the paws, and hyperextended limbs. Urinary incontinence and regurgitation may occur as the disease progresses. Affected dogs lose feeling in all limbs and develop an inability to recognize the position of their limbs in space. Hind limbs tend to be more severely affected than front limbs. Affected dogs will often chew on their lower limbs and feet as they lose feeling, resulting in severe wounds. Affected dogs are often euthanized within 18 months of diagnosis due to quality of life concerns.

Breed-Specific Information for the Border Collie

The Mutation of the FAM134B gene associated with sensory neuropathy has been identified in the border collie, although its overall frequency in this breed is unknown.

Testing Tips

Genetic testing of the FAM134B gene in border collies will reliably determine whether a dog is a genetic Carrier of sensory neuropathy. Sensory neuropathy is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the FAM134B gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Border collies that are not carriers of the mutation have no increased risk of having affected pups.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

References

www.pawprintgenetics.com

  • Forman OP, Hitti RJ, Pettitt L, Jenkins CA, O’Brien DP, Shelton GD, Risio LD, Quintana RG, Beltran E, Cathryn Mellersh. An inversion disrupting FAM134B is associated with sensory neuropathy in the Border Collie dog breed. G3 (Bethesda). 2016 Sep 8;6(9):2687-92. [PubMed: 275277974]




trapped neutrophil syndrome


Common Symptoms

Trapped Neutrophil Syndrome is an inherited disease affecting Border Collies. This disease affects the immune system and its ability to fight infection. Affected dogs most commonly present between the ages of 6-12 weeks with signs of immune dysfunction. Symptoms of the disease are dependent on the specific infection that the dog is fighting and may include failure to thrive, poor growth, weight loss, lethargy, diarrhea, and vomiting. Affected dogs may also present with active respiratory, skin, eye or ear infections. Affected puppies are often smaller than normal littermates and can have a narrow, elongated, ferret-like head. Occasionally affected dogs can be mildly affected and not show signs of disease until 1 to 2 years of age, but typically affected dogs die from an infection by four months of age.

Breed-Specific Information for the Border Collie

The Mutation of the VPS13B gene associated with trapped Neutrophil syndrome has been identified in the Border Collie. Though the exact frequency of the causal mutation in the general Border Collie population is unknown, 12.9% out of 2094 Border Collies tested from Europe, USA, UK, Australia and Japan were carriers.

Testing Tips

Genetic testing of the VPS13B gene in Border Collies will reliably determine whether a dog is a genetic Carrier of trapped Neutrophil syndrome. Trapped Neutrophil Syndrome is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the VPS13B gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Border Collies that are not carriers of the mutation have no increased risk of having affected pups.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

References

www.pawprintgenetics.com

  • Shearman JR, Wilton AN. A canine model of Cohen syndrome: Trapped Neutrophil Syndrome. BMC Genomics. 2011 May 23; 12:258. [PubMed: 21605373]
  • The Border Collie Club of NSW Inc. [internet] Trapped Neutrophil Syndrome. [cited 19 April 2014]. Available at http://www.bccnsw.com/tns.html


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