CEA - Collie Eye Anomaly/Choroidal Hypoplasia

The Disease

Collie Eye Anomaly is an inherited disease with recessive mode of inheritance which results in abnormal development of the eye's choroid.The disease can be mild or servere, in the mild form of the disease, there is a thinning in the choroid layer of the eye but the dog's vision remains normal, however, dogs with the mild form of the disease can produce severly afected offspring.

In the Severe form of the disease, the dog can suffer serious loss of vision, Colobomas can be seen around and at the optic nerve head as outpouchings in the eye tissue layers. Colobomas may lead to secondary complications such as partial or complete retinal detachments and/or growth of new but abnormal blood vessels with bleeding inside the eye. The disease can affect one or both eyes and can lead to vision loss although this disease rarely lead to complete blindness.

Trait of Inheritance

CEA follows an autosomal recessive mode of inheritance.

Clear

Genotype: N / N [ Homozygous normal ]

The dog is noncarrier of the mutant gene.

It is very unlikely that the dog will develop Collie Eye Anomaly (CEA) / Choroidal Hypoplasia (CH) . The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

Carrier

Genotype: N / CEA [ Heterozygous ]

The dog carries one copy of the mutant gene and one copy of the normal gene.

It is very unlikely that the dog will develop Collie Eye Anomaly (CEA) / Choroidal Hypoplasia (CH) but since it carries the mutant gene, it can pass it on to its offspring with the probability of 50%.

Carriers should only be bred to clear dogs.

Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table ). One normal gene means that dog is a Normal eyed Carrier We do breed Carrier to carrier And Do DNA on all puppies

Affected

Genotype: CEA / CEA [ Homozygous mutant ]

The dog carries two copies of the mutant gene and therefore it will pass the mutant gene to its entire offspring.

The dog is likely to develop Collie Eye Anomaly (CEA) / Choroidal Hypoplasia (CH) and will pass the mutant gene to its entire offspring.

Here at Glasgowhill Collies we do not breed CEA Affected to Affected

Cyclic hematopoiesis, Gray collie syndrome, CH, CN

Affected Genes:AP3B1

Inheritance:Autosomal Recessive

Common Symptoms

Cyclic Neutropenia is an inherited disease affecting rough collies. Affected dogs undergo an oscillating cycle in the quantity of a type of white blood cells called neutrophils, important for controlling and preventing bacterial and fungal infections. Affected dogs have Neutrophil counts oscillating between normal quantities to almost zero neutrophils on an approximate 2 week frequency. Affected puppies often die within a few days of birth or are stunted in growth. Affected dogs have a gray coat color and are vulnerable to infections during periods of low neutrophil counts. Symptoms associated with this condition are normally seen during or immediately after a period of low neutrophil counts. Symptoms include fever, diarrhea, inflamed lymph nodes, gingivitis, lameness and mild bleeding episodes. Even with medical care, most dogs die before 2 years of age due to liver or kidney failure .

All Our Collies are Clear of this mutation BY DNA Test

Canine degenerative myelopathy, DM

Affected Genes:SOD1

Inheritance:Autosomal Recessive With Incomplete Penetrance

Mutation:chr31:26540342 (canFam3): G>A

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Common Symptoms

Degenerative Myelopathy caused by Mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, including the rough collie. While it is not clear for some of the other breeds, collies are known to develop degenerative myelopathy associated with this mutation. 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 rough 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 Rough Collie

The Mutation of the SOD1 gene associated with degenerative myelopathy has been identified in rough collies. The overall frequency of this disease in the breed and approximate age of disease onset are unreported for rough collies. However, in one study of 151 collies tested, 25.8% were carriers of the mutation and 25.8% were at-risk/affected.

Testing Tips

Genetic testing of the SOD1 gene in rough 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. Rough collies that are not carriers of the mutation have no increased risk of having affected pups.

Here at Glasgowhill Collies We DO NOT breed Carrier to Carrier Or Affected To Affected Or Affected to Carrier . We only Breed Normal to normal or Normal to carrier

PRA-rcd2

Affected Genes:RD3

Inheritance:Autosomal Recessive

Common Symptoms

Progressive retinal Atrophy, Rod-cone dysplasia 2 is an early-onset, inherited eye disease affecting rough collies. Progressive retinal atrophy, rod-cone dysplasia 2 occurs as a result of degeneration of both rod and cone type Photoreceptor Cells of the Retina, which are important for vision in dim and bright light, respectively. Affected dogs have abnormal thinning and degeneration of the retina beginning around 16 days of age. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision noticeable at about 6 weeks of age. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the Tapetum that can be observed at 3.5-4 months of age on a veterinary eye exam. As the disease progresses, cone photoreceptor cells also degenerate resulting in complete blindness by 6 to 8 months of age.

Breed-Specific Information for the Rough Collie

The Mutation of the RD3 gene associated with progressive retinal Atrophy, Rod-cone dysplasia 2 has been identified in rough collies, although its overall frequency in this breed is unknown.

Testing Tips

Genetic testing of the RD3 gene will reliably determine whether a rough collie is a genetic Carrier of progressive retinal Atrophy, Rod-cone dysplasia 2. Progressive retinal atrophy, rod-cone dysplasia 2 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 being a carrier of the RD3 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. Rough collies that are not carriers of the mutation have no increased risk of having affected pups. However, because there are multiple types of PRA caused by mutations in other genes, a normal result in RD3 does not exclude PRA in a pedigree.

All our collies at Glasgowhill Are DNA tested Clear

IPD

Affected Genes:AKNA

Inheritance:Autosomal Recessive

Common Symptoms

Recurrent inflammatory pulmonary disease is an inherited disease affecting rough collies. Affected dogs present within the first week of life with signs of respiratory disease including coughing, nasal discharge, fever, vomiting, and shallow, noisy breathing. Dogs respond to treatment, but relapse quickly after treatment has ended. Some dogs may be maintained with medical therapy for years while continuing to have signs of respiratory disease throughout their life.

Breed-Specific Information for the Rough Collie

The Mutation of the AKNA gene associated with recurrent inflammatory pulmonary disease has been identified in the rough collie. Though the exact frequency in the overall rough collie population is unknown, one study found approximately 21% of 85 rough collies studied were carriers of the mutation.

Testing Tips

Genetic testing of the AKNA gene in rough collies will reliably determine whether a dog is a genetic Carrier of recurrent inflammatory pulmonary disease. Recurrent inflammatory pulmonary disease is inherited in an Autosomal Recessive manner in dogs. This means 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 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 AKNA gene mutation. Reliable genetic testing is important for determining breeding practices. To eliminate this mutation from breeding lines and avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Rough collies that are not carriers of the mutation have no increased risk of having affected pups.

All Our collies are tested Clear of this mutation By DNA

Juvenile Dermatomyositis, DMS, JDM

Affected Genes:DRB1, MAP3K7CL, PAN2

Inheritance:Complex Inheritance

Common Symptoms

Dermatomyositis (DMS) is an immune mediated, inflammatory disease affecting the skin and muscles of Collies and Shetland Sheepdogs. Skin lesions can present before 6 months of age and typically precede muscle lesions. However, some dogs develop skin lesions later into adulthood. These wounds begin as small swellings that become pustules, ulcers, and crusty hairless regions. Affected areas include the muzzle, footpads, around the eyes and lips, ears, and any bony prominences like the points of the elbow or the tops of the paws. Unless secondarily infected, lesions are not painful or itchy. Typically, the disease peaks around 1 year of age, and in some cases the dog may improve as it continues to age. Some dogs with DMS may develop inflammation of the muscles (myositis) without showing skin lesions. Over time, muscles may show signs of Atrophy, especially the muscles needed for chewing. Affected dogs may have difficulty eating and drinking from a bowl and may walk with a stiff-legged gait. More commonly, skin lesions occur months before myositis develops. When present, myositis is consistent with overall disease severity, with mildly affected dogs presenting no signs of muscle issues. Dogs with severe myositis can exhibit stunted growth, widespread muscle atrophy, and aspiration pneumonia from swallowing difficulties. Treatment is focused on management of the presenting skin lesions along with regulating the immune system to reduce the presentation. Although most dogs will respond to treatment, relapses are common. Severe skin lesions may result in scarring. Long term complications are possible for dogs with chronic DMS lesions.

Breed-Specific Information for the Rough Collie

The mutations associated with risk of dermatomyositis have been identified in the Rough Collie. Though the exact frequency of these mutations in the overall Rough Collie population is unknown, one study demonstrated that approximately 18% of 225 undifferentiated Collies tested were found to have some combination of the three loci that are associated with an increased risk of developing DMS. In addition, 6% of these Collies had a combination associated with high risk for dermatomyositis. This study also suggests that all purebred Collies have increased susceptibility for dermatomyositis due to the near fixation of the C Locus.

Testing Tips

Research into the genetic cause of dermatomyositis (DMS) in Collies and Shetland Sheepdogs identified DNA variations/mutations in three regions of the genome associated with DMS risk. The three regions (loci) of the genome are: PAN2 (Locus A), MAP3K7CL (Locus B), and DLA-DRB1 (Locus C). Specific combinations of the three loci are associated with an increased risk of developing DMS (see table below). For Locus A and Locus B, the normal “wild type” versions (alleles) of the gene are represented by lower case letters, “a” and “b”, whereas the mutant “risk” alleles are represented by capital letters, “A” and “B”. Locus C is the Dog Leukocyte Antigen (DLA) region of the canine genome and is part of the major histocompatibility complex (MHC) which plays a critical role in the immune response. Locus C is a complex and highly variable region with standardized nomenclature for each Allele. Each allele is defined by having a unique DNA sequence across the >em>DLA-DRB1 region. The “002:01” allele is associated with DMS risk and is represented by a capital letter, “C”, whereas all other alleles are represented by a lower case “c”. Reliable genetic testing is important for determining breeding practices. In general, it is recommended to avoid breeding dogs that will produce puppies with high-risk genotypes. For example, one breeding strategy, focused on the Locus A and Locus B genotypes, would be to breed any “aa” genotype dog to any “bb” genotype dog because they will not produce puppies with moderate or high-risk genotypes. Likewise, breeding an “aabb” dog will not produce moderate or high-risk puppies.

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.

We also do OFA Hips You can go to the website for the orthapedic Foundation Of Animals and put {Glasgowhill} Into the search to view those results . you can also put in registered name