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Bull Mastiff DNA bundle (DM+CMR+CY+MFE+PRA)
Test number: 8926
Price: £ 138.00 (including VAT) for all 5 tests
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1 ) Degenerative Myelopathy / Degenerative Radiculomyelopathy) DM (Exon 2) / SOD1
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Breeds
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Airedale Terrier
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Alaskan Malamute
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All Dog Breeds
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American Eskimo
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Bernese Mountain Dog
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Bloodhound
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Borzoi (Russian Wolfhound)
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Boxer
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Cavalier King Charles Spaniel
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Canaan Dog
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Welsh Corgi (Cardigan)
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Chesapeake Bay Retriever
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Cockapoo (English)
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Cockapoo (American)
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Fox Terrier
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French Bull Dog
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German Shepherd
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Glen Of Imaal Terrier ( GIT )
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Golden Retriever
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Goldendoodle
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Pyrenean Mountain Dog (Great Pyrenees)
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Hovawart
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Pumi ( Hungarian Pumi / Pumik )
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Jack Russell Terrier
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Kerry Blue Terrier
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Labradoodle
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Labrador Retriever
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Lakeland Terrier
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Northern Inuit (Tamaskan / British Timber Dog)
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Nova Scotia Duck tolling Retriever ( NSDTR / Toller)
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Pembroke Welsh Corgi
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Poodle
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Pug
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Rhodesian Ridgeback
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Rough Collie
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Soft Coated Wheaten Terrier
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Shetland Sheepdog (Sheltie)
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Smooth Collie
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Utonagan
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Wire Fox Terrier
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Kennel Club
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This test is part of the Official UK Kennel Club DNA Testing Scheme in Chesapeake Bay Retriever, French Bull Dog, German Shepherd, Nova Scotia Duck tolling Retriever ( NSDTR / Toller), Rough Collie, and Smooth Collie.
for UK registered dogs, Laboklin can send results of the tests which are part of the Official UK Kennel Club DNA testing scheme to the Kennel Club (KC) to be recorded and published
as part of the Kennel Club scheme. Results will only be recorded and published by the KC if the result report includes the dog’s
microchip or tattoo number along with either the dog’s registered name or registered number. Any test results that do not carry these identifying
features will not be recorded by the Kennel Club.
In order to ensure that test results are sent to the Kennel Club, customers must also sign the declaration section on the order form to give Laboklin permission to do so.
important:
When you sign the declaration, Laboklin will send the results to the KC on your behalf, and you do not need to send them to the KC yourself again to avoid unnecessary duplications.
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The Disease |
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Canine degenerative myelopathy (also known as chronic degenerative radiculomyelopathy) is a progressive disease of the spinal cord in older dogs. The disease has an insidious onset typically between 7 and 14 years of age. It begins with a loss of coordination (ataxia) in the hind limbs. As of July 15, 2008 the mutated gene responsible for DM has been found present in 43 breeds including German Shepherds, Boxers, Chesapeake Bay Retrievers, Rhodesian Ridgebacks, and both breeds of Welsh Corgis. The disease is chronic and progressive, and resulting in paralysis.
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Clinical Signs |
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Degenerative myelopathy initially affects the back legs and causes muscle weakness and loss, and lack of coordination. These cause a staggering effect that may appear to be arthritis. The dog may drag one or both rear paws when it walks. This dragging can cause the nails of one foot to be worn down. The condition may lead to extensive paralysis of the back legs. As the disease progresses, the animal may display symptoms such as incontinence and has considerable difficulties with both balance and walking. If allowed to progress, the animal will show front limb involvement and extensive muscle atrophy. Eventually cranial nerve or respiratory muscle involvement necessitates euthanasia.
Progression of the disease is generally slow but highly variable. The animal could be crippled within a few months, or may survive up to three years
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Trait of Inheritance |
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Tow alleles are invloved in Degenerative Myelopathy, A and G, therefore a test result can be A/A, A/G, or G/G.
Mode of inheritance is autosomal recessive with variable penetrance;
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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Clear
Genotype: N / N [ Homozygous normal ]
The dog is noncarrier of the mutant gene.
It is very unlikely that the dog will show signs of the Degenerative Myelopathy
Carrier
Genotype: N / DM (Exon 2) [ 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 show signs of the Degenerative Myelopathy
Affected
Genotype: DM (Exon 2) / DM (Exon 2) [ 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 may or may not show signs of the disease
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2 ) Canine Multi-Focal Retinopathy (CMR 1/2/3)
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Breeds
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American Bulldog
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Australian Shepherd
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Boerboel (South African mastiff)
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Bull Mastiff
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Bulldog (English)
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Cane Corso (Italian)
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Coton de Tulear
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Dogue de Bordeaux (French Mastiff)
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English Mastiff
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Finnish Lapphund
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French Bull Dog
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Pyrenean Mountain Dog (Great Pyrenees)
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Lapponian Herder
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Mastiff
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Miniature American Shepherd
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Perro de Presa Canario (Dogo Canario)
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Swedish Lapp Hund
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The Disease |
Canine Multi-focal Retinopathy (CMR) is a recently identified recessively inherited eye disease observed in a number of dog breeds which is characterised by the presence of numerous distinct (i.e. multi-focal), roughly circular patches of elevated retina with accumulation of material that produces gray-tan-pink colored lesions. These lesions, looking somewhat like blisters, vary in location and size, although typically they are present in both eyes of the affected dog.Discrete areas of tapetal hyper-reflectivity might also be seen.
The disease generally develops in young dogs before 4 months and might progress slowly, might appear to heal, or might even appear and then go away again. Some dogs affected with CMR do not show clinical symptoms of disease until later in life. Some lesions disappear with no remaining sign, while some lesions leave a wrinkled area. Some leave the lasting lesion of a blister formation. Most dogs exhibit no noticeable problem with vision despite their abnormal appearing retinas. And in almost all cases, CMR does not progress significantly over time. The disease seems to have a consistent pattern among the breeds identified so far, although lesions in the Coton de Tulear are often more serious and seem to remain longer than in some of the other CMR-affected breeds. In rare severe cases, the clinical diagnosis could be confused with progressive retinal atrophy (PRA).
Please note that Lapponian Herder can be affected two other forms of PRA, the IFT122-PRA and the prcd PRA |
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Trait of Inheritance |
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autosomal recessive mode
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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Clear
Genotype: N / N [ Homozygous normal ]
The dog is noncarrier of the mutant gene.
It is very unlikely that the dog will develop Canine Multi-Focal Retinopathy (CMR 1/2/3). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / CRM [ 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 Canine Multi-Focal Retinopathy (CMR 1/2/3) 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 above)
Affected
Genotype: CRM / CRM [ 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 Canine Multi-Focal Retinopathy (CMR 1/2/3) and will pass the mutant gene to its entire offspring
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3 ) Cystinuria
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Breeds
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Australian Cattle Dog
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Bull Mastiff
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Bulldog (English)
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English Mastiff
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French Bull Dog
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Labrador Retriever
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Landseer
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Mastiff
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Miniature Pinscher
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Newfoundland
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Kennel Club
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This test is part of the Official UK Kennel Club DNA Testing Scheme in Newfoundland.
for UK registered dogs, Laboklin can send results of the tests which are part of the Official UK Kennel Club DNA testing scheme to the Kennel Club (KC) to be recorded and published
as part of the Kennel Club scheme. Results will only be recorded and published by the KC if the result report includes the dog’s
microchip or tattoo number along with either the dog’s registered name or registered number. Any test results that do not carry these identifying
features will not be recorded by the Kennel Club.
In order to ensure that test results are sent to the Kennel Club, customers must also sign the declaration section on the order form to give Laboklin permission to do so.
important:
When you sign the declaration, Laboklin will send the results to the KC on your behalf, and you do not need to send them to the KC yourself again to avoid unnecessary duplications.
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The Disease |
Cystinuria is an inherited disorder caused by a defective transport of the amino acid cystine in the kidney tubules. Normally, cystine is filtered in the kidney and reabsorbed within the tubules, resulting in little cystine in the urine. Dogs with Cystinuria do not properly reabsorb the cystine (and a few other amino acids) in the kidney tubules, causing the urine to contain abnormally high levels of cystine. Cystine is insoluble in neutral pH or acidic urine, so excess urinary cystine results in the formation of crystals, which in turn can lead to formation of cystine calculi (stones) in the kidney and/or the bladder.
Dogs suffering from Cystinuria suffer repeated urinary tract inflammations, and are at risk for urinary blockage, which can, if not treated promptly, lead to kidney failure, bladder rupture, and death.
The average age of onset of clinical signs attributable to Cystinuria is about 4.8 years, but in Newfoundlands, signs appear as early as 6 months to 1 year, suggesting that Newfoundlands suffer from a more severe form of the disorder than other breeds.
Treatment of the Disease
Cystinuria in humans and dogs is generally treated with compounds that bind cystine and prevent crystal formation. The two most common drugs of choice are 2-mercaptopropionylglycine (MPG) and D-penicillamine. Little information is available on effective dosages for Newfoundlands, however, at least one study indicated that affected Newfoundlands require higher dosages of MPG than other dogs with Cystinuria. D-penicillamine was found to be of minimal benefit in reducing cystine calculi. This may relate to the fact that Newfoundlands suffer from a more severe form of the disorder than other breeds. Treatment with MPG can, in some cases, result in dissolution of cystine calculi, therefore eliminating the need for surgical removal of the stones. Unfortunately, some Newfoundlands are poorly responsive to medical treatment, suffering from recurring bouts of urinary dysfunction, and, oftentimes, requiring surgery to resolve urinary calculi. In male Mastiff, Continental, English, French and Olde English Bulldogs, we test for the marker which has strong association with the occurrence of Cystinuria. Only intact males which are tested homozygous for the marker are known to show symptoms of the disease. Females are not known to show symptoms. Due to high occurrence of the disease it is not recommended to remove carriers from breeding to avoid compromising the gene pool, but carrier should only be bred with clear animals. In affected dogs which are showing symptoms of the disease, castration can alleviate symptoms. |
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Description |
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PCR
Cystinuria is a well-known hereditary metabolic disorder that leads to the formation of urinary stones and urinary obstruction. It has now been described in over 70 breeds. New studies have shown that this disease is very heterogeneous in terms of inheritance, mutation, frequency, severity, treatment and symptoms. A distinction is now made between the following subtypes of cystinuria affecting the different breeds:
The designation of type I cystinuria is used when the disease shows autosomal recessive inheritance, Type II when inheritance is autosomal dominant, and Type III for sex-limited/androgen-dependent inheritance (PH, UG, unpublished data). Additional types can be assigned if found. Specific mutations within each type should lead to phenotypes that are sufficiently similar that the same medical management and breeding advice applies to all cases within that type. Involvement of the SLC3A1 gene is indicated by adding - A, and similarly addendum of - B indicated involvement of mutations in SLC7A9.
- Newfoundland, Landseer, Labrador: Type I -A - autosomal recessive inheritance
- Miniature Pinscher: Type II - B - autosomal dominant inheritance
- Australian Cattle Dog: Type II - A - dominant inheritance
- Mastiff, Bulldogs, Kromfohrländer and Irish Terrier: Type III - androgen-dependent expression.
The type III genetic test is currently available for the variant which is known to be associated with symptoms of the disease in the Mastiff, Continental, English, French and Olde English Bulldog breeds since December 2016, however, there is currently no test available for Kromfohrländer and Irish Terrier. We test for a marker which is strongly associated with the occurrence of cystinuria. Type III Cystinuria affects only intact male dogs which have two copies of the cystinuria marker (cy/cy). Castration can alleviate the symptoms. Bitches do not show any symptoms but pass on the mutation to offspring.
Prevalence: between 8 and 16% of the dogs are genetically affected, while the carrier rate is between 32 and 50%. Targeted breeding reduces the frequency of the marker associated with the disease and is therefore desirable. Due to the high frequency of the gene, it is advisable that carriers should not taken out of breeding in order maintain the diversity of the gene pool. Dogs (Males or Females) tested Carriers (N/cy) should only be bred with clear dogs (N/N). Bitches tested genetically affected (homozygous for the mutation) (Cy/Cy) should not be removed from breeding but should only be bred with clear dogs (N/N).
Mating with free animals is possible without any problems. The Laboklin team will be happy to answer any further questions you may have.
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Trait of Inheritance |
- in Newfoundland, Landseer, Labrador: autosomal recessive inheritance
- in Miniature Pinscher: autosomal dominant inheritance
- in Australian Cattle Dog: dominant inheritance. In this breed the disease in homozygous dogs (Cy / Cy) is more serious than in heterozygous dogs (N / Cy) .
- In Mastiff, Bulldogs, Kromfohrländer and Irish Terrier: androgen-dependent expression.
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Inheritance : AUTOSOMAL
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4 ) Mitochondrial Fission Encephalopathy (MFE) / Familial Cerebellar Ataxia
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The Disease |
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Mitochondrial Fission Encephalopathy (MFE)
Mitochondrial Fission Encephalopathy (MFE) is also known as Cerebellar Ataxia, Familial Cerebellar Ataxia, Progressive Neuronal Abiotrophy (Ataxia)
Mitochondrial Fission Encephalopathy (MFE) is a genetic disorder affecting the Bulllmastiff breed and characterised by ataxia, hypermetria, conscious proprioceptive deficits, behavioural abnormalities, and a visual deficit.
Symptoms start early in life when the pups are 6-16 weeks old and include visual impairment unsteady gait, uncoordinated movement, stiffness in the muscles of the back legs, bizarre behavioural changes and eventually puppies become unable to stand, and euthanasia is usually carried out as a result of continued deterioration and unresponsiveness to treatment.
Histological examination revealed that pathological changes were confined to the brains of the affected animals. A mild to moderate degree of hydrocephalus was present in each case.
Mode of inheritance is autosomal recessive which means that two copies of the mutations (one from each parent) are required to cause the disease. Carriers are not at risk of developing the disease but s
hould only be bred with clear dogs.
A DNA test is now available at Laboklin and will help breeders in controlling the variant in the breed. |
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Trait of Inheritance |
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Autosomal Recessive
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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Clear
Genotype: N / N [ Homozygous normal ]
The dog is noncarrier of the mutant gene.
It is very unlikely that the dog will develop Mitochondrial Fission Encephalopathy (MFE) / Familial Cerebellar Ataxia. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / MFE [ 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 Mitochondrial Fission Encephalopathy (MFE) / Familial Cerebellar Ataxia 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 above)
Affected
Genotype: MFE / MFE [ 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 Mitochondrial Fission Encephalopathy (MFE) / Familial Cerebellar Ataxia and will pass the mutant gene to its entire offspring
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5 ) Progressive Retinal Atrophy (Dominant PRA)
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Breeds
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Bull Mastiff
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English Mastiff
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The Disease |
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Progressive retinal atrophy (PRA) is a leading hereditary cause of blindness in pedigree dogs as is its counterpart retinitis pigmentosa (RP) in humans. PRA shows genetic heterogeneity, as does RP, with several distinct forms already recognized and several more remaining to be investigated.
Pups show signs of night-blindness by 6 weeks of age. By the age of 1-2 years most affected dogs are completely blind.
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Description |
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This is a mutation-based gene test, which offers many advantages over other methods
Progress in molecular genetics has allowed the identification of the gene mutation responsible for PRA in the Bull and English Mastiff.
By DNA testing, the responsible mutation can be shown directly. This method provides a very high accuracy test and can be done at any age. It offers the possibility to distinguish between affected and clear dogs. This is an essential information for controlling the disease in the breed.
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Trait of Inheritance |
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Mastiffs and Bullmastiffs exhibit the first, and so far, only form of canine Progressive Retinal Atrophy - PRA - that is inherited as a dominant trait. Therefore only affected or unaffected dogs can be found. The Mastiffs are affected by the late onset form of the PRA.
Since vision loss might be recognised first when the dog is several years old, it is important to determine the actual status of the dog before breeding it.
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Inheritance : AUTOSOMAL
DOMINANT
trait
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Price
for the above 5 tests
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£ 138.00 (including VAT)
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