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Continental Bulldog DNA bundle (Cystinuria + DVL2 + B-Locus )
Test number: 8923
Price: £ 126.00 (including VAT) for all 3 tests
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1 ) 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
trait
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2 ) Robinow-like Syndrome ( DVL2 )
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Breeds
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All Dog Breeds
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American Bulldog
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American Pitbull Terrier
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American Staffordshire Terrier
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Boston Terrier
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Bulldog (English)
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Continental Bulldog ( Conti )
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Dogue de Bordeaux (French Mastiff)
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French Bull Dog
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Olde English Bulldogge
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Shih Tzu
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Staffordshire Bull Terrier
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The Disease |
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Robinow-like-Syndrome (DVL2)
With their small size, stubby faces and wide-set eyes, bulldogs, French bulldogs and Boston terriers are among the most popular of domestic dog breeds. Now researchers at the University of California, Davis, School of Veterinary Medicine have found the genetic basis for these dogs’ appearance, and linked it to a rare inherited syndrome in humans.
Genetic variants of the Dishevelled 1 (DVL1) and 3 (DVL3) genes cause the so-called Robinow syndrome in humans , which can be characterized by distinctive facial features (prominent forehead, widely spaced eyes, flat nasal bridge) as well as mesomelic limb shortening (middle parts of limbs are disproportionately short) and cardiac, oral and urogenital anomalies.
English Bulldogs, French Bulldogs and Boston Terriers
In English Bulldogs, French Bulldogs and Boston Terriers, a variant of the DVL2 gene has been found to be fixed (always homozygous for the variant DVL/DVL). This genetic variant leads to altering a protein that affects an important cell-to-cell communication system, which is crucial for tissue development.
The typical phenotype of these breeds includes a wide head, a short muzzle (brachycephaly), widely spaced eyes and a small size. Malformed, fused or lacking caudal vertebrae which leads to truncated and kinked tails, so that the breeds are also called screw tail breeds.
In these three breeds, the DVL2 variant has been found to segregate with the breed defining phenotype as well as thoracic and caudal vertebral malformations in a recessive manner, however, regarding to the thoracic vertebral malformations, the variant seems to have an incomplete and variable penetrance between different breeds. Moreover, the DVL2 variant contributes to the brachycephalic phenotype, in addition to other known genetic variants of the SMCO2 and BMP3 gene. The DVL2 variant could also be linked to other health concerns like the brachycephalic obstructive airway syndrome (BOAS) and congenital heart defects, but this is still part of ongoing research.
In other none-screw tail breeds
Beside the screw tail breeds, the DVL2 variant has also been found homo- or heterozygous in the Pit bull, Staffordshire Bull Terrier, Shih Tzu, American Staffordshire Terrier, Dogues de Bordeaux, Old English Bulldog and American Bulldog. In these breeds, the DVL2 variant seems to be associated with a brachycephalic phenotype and caudal vertebral malformations as well. However, in contrast to the screw tail breeds, the total number of the vertebrae is not reduced and the tail is not completely malformed. Furthermore, no thoracic vertebral malformations have been observed, perhaps due to the variable penetrance of this trait. |
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3 ) Coat Colour: B Locus (bd, bc, bs) Brown Coat Colour
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Breeds
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All Dog Breeds
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American Cocker Spaniel
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Australian Shepherd
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Bedlington Terrier
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Border Collie
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Welsh Corgi (Cardigan)
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Dachshund
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Dalmatian
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Doberman Pinscher
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English Cocker Spaniel
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Flatcoated Retriever
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Fox Terrier
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French Bull Dog
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Galgo Espanol
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German Longhaired Pointer
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German Shorthair Pointer
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Gordon Setter
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Griffon Bruxellois
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Irish Soft Coated Wheaten Terrier
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Koolie ( Australian Koolie )
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Labrador Retriever
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Miniature Pinscher
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Newfoundland
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Pointer
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Portuguese Waterdog
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Scottish Terrier
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Weimaraner
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Description |
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This test is for the 'bd', 'bc' and 'bs'variants, which are described in all dog breeds and are responsible for the brown coat colour, which is also known in some breeds as liver, chocolate, chestnut, sedge, and less frequently, red. Two copies of the b-allele are needed to dilute black pigment to brown. For red or yellow dogs, the brown allele does not dilute the hair colour, but will change the colour of nose and foot pads from black to brown if two brown alleles are present.
When one of the variants is found homozygous (bd/bd, bc/bc or bs/bs), dark pigment (eumelanin) is diluted to brown in the pigmented areas. However, when several variants of the B-locus are found in heterozygous state (example N/bd and N/bc), it is not always possible to directly determine the influence on the eumelanin because this depends on whether the variants are located on the same or different chromosmes, however, the dog will definitely pass the variants to its offspring.
Australian Shepherd and Lancashire Heeler Please note there are two additional rare variants, which are not analysed in this test. The 'b4' variant which is only found in few Australian Shephered lines, and the 'be' variant which is only found in Lancashire Heeler, and therefore for a complete analysis in Australian Shepherd and Lancashire Heeler, you need to order this test in addition to the rare variant test . You can take advantage of our special offer 'second coat colour test at half price (excluding bundles)'.
French Bulldog
In French Bulldog, in addition to the B-locus, the Cocoa gene is also responsible for the brown coat colour, and therefore, in addition to this test you also need to order the Cocoa coat colour test . You can of course take advantage of our special offer 'second coat colour test at half price (excluding bundles)'.
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Price
for the above 3 tests
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£ 126.00 (including VAT)
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