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.

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Type II when inheritance is autosomal dominant, and Type III for sex-limited/androgen-dependent inheritance (PH, UG, unpublished data).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.

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.

Please note that Exon 2 can be found in all dog breeds, there is another DM mutation in Exon 1 which can only be found in Bernese Mountain Dog, click here for more information.

For bernese Mountain Dog we have a special offer for both Exon 1 and Exon 2 at reduced price, click here for more details.

The D locus is the primary locus associated with diluted pigment, which results in coats that would otherwise be black or brown instead showing up as gray, or blue in the case of black, and pale brown or Isabella / Lilac / Lavender in the case of brown. The melanophilin gene has recently been shown to be responsible, but not all of the dilute causing mutations have been identified yet.

A recessive mutation in the melanophilin gene was identified as the cause of colour dilution phenotypes in the dog. Two alleles (variants) are described: the dominant full colour (D) and the recessive dilute (d). Two copies of dilute are needed to lighten black pigment to blue / grey and brown (liver / chocolate / cocoa / red in border collie) pigment to lilac / isabella / lavender (in Pomeranian). A diagnostic DNA test identifies the specific variants of the MLPH gene.

Please note that in the Chow Chow, Thai Ridgeback and Sloughi breeds, there is another mutation that can cause coat colour dilution, it is the D2 Locus mutation and in those breeds both D1 Locus and D2 Locus mutations must be tested for complete analysis.

Please note that in the Chihuahua, Italian Greyhound, Mudi (Hungarian Mudi) and Hungarian Pumi breeds, there is another mutation that can cause coat colour dilution, it is the D3 Locus mutation and in those breeds both D 1Locus and D3 Locus mutations must be tested for complete analysis.

Please note that dilution (blue, lilac, isabella, etc) is just a colour and that it is not known to be associated with any health conditions

KC

Please note that this test is part of the KC DNA testing scheme in Labrador Retriever. If you would like Laboklin to send the result to the KC, please sign the declaration at the bottom of the form to give us a permission . Please note that the KC will oly publish clear results but would make a note of any result received.

Colour Dilution Alopecia (CDA)

CDA is a genetic recessive inherited condition that causes patches of hair thinning or loss and may also include flaky and/or itchy skin. CDA occurs in dilute dogs (homozygous for the dilute gene d/d) in some breeds, however there is no direct link between CDA and the dilute gene, and there is no evidence that the dilute gene is responsible for CDA. It is though that there are other, not yet identified, genetic factors causing CDA in dilute dogs of some breeds. Any colour can carry CDA but symptoms are only expressed in blue and isabella dogs affected by CDA.

breeding

Since CDA is a recessive gene, it can, in theory, be bred out of most lines by breeding dilute dogs with healthy coats. Breeding healthy dilute dogs with healthy dilute dogs is one way to reduce the occurrence of CDA until testing becomes available.

Breeds known to be affected by CDA:

• Bernese Mountain Dog
• Boston Terrier
• Chihuahua
• Chow Chow
• Dachshund
• Doberman Pinscher
• Great Dane
• Irish Setter
• Italian Greyhound
• Mudi (Hungarian Mudi)
• Newfoundland
• Saluki
• Schipperke
• Shetland Sheepdog
• Standard Poodle
• Whippet
• Yorkshire Terrier

Muscular dystrophy (MD) in Cavalier King Charles Spaniel, Golden Retriever and Norfolk Terrier is a spontaneous, X-linked, progressively fatal disease of dogs and is also a homologue of Duchenne muscular dystrophy (DMD). Affected dogs show raised creatine kinase levels, muscle atrophy with contractures, hyaline myofiber degeneration with mineralization, endomysial and perimysial fibrosis with fatty infiltration, and cardiomyopathy. In American Staffordshire Terrier and Landseer, Muscular Dystrophy is inherited as an autosomal recessive trait. Affected dogs exhibit a general, whole body muscular weakness, they move slowly and clumsy and some cannot walk at all. First symptoms in the course of movement appear at the age of three to six month. Affected dogs usualy die between the ages of 4 and 24 months.