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Golden Retriever DNA bundle: GR-PRA1 + GR-PRA2 + Ichthyosis + prcd-PRA + Muscular Dystrophy + NCL
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1 ) Progressive Retinal Atrophy (GR-PRA1)
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Kennel Club
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This test is part of the Official UK Kennel Club DNA Testing Scheme in Golden Retriever.
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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.
The retina is a thin layer of neural cells that lines the back of the eyeball. The vertebrate retina contains photoreceptor cells (rods and cones) that respond to light. The cones mediate high-resolution vision and colour vision. The rods mediate lower-resolution, black-and-white, night vision. The degeneration of the retina results in loss of vision, often leading to blindness. One can distinguish between late onset forms of PRA and early onset (whelp-age) dysplastic changes. The clinical and ophthalmologic signs of both forms are similar.
Affected dogs suffer from bilateral Mydriasis, the reflection of the Tapetum lucidum is increased and the retinal vascular network appears atrophic. Currently, there is no treatment for the disease.
Golden Retriever:
Three different mutations causing PRA have been identified in the Golden Retrievers breed: the well-known prcd-PRA , the GR_PRA1 mutation and
GR_PRA2 which were recently identified by researchers of the Animal Health Trust and the university of Uppsala.
LABOKLIN offers DNA testing for all three mutations individually in addition to a special discounted offer for the combined testing of the three mutation. Details of the special offer can be found on this link: Golden Retriever PRA Special offer. |
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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 Progressive Retinal Atrophy (GR-PRA1). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / GR-PRA1 [ 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 Progressive Retinal Atrophy (GR-PRA1) 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: GR-PRA1 / GR-PRA1 [ 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 Progressive Retinal Atrophy (GR-PRA1) and will pass the mutant gene to its entire offspring
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Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
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2 ) Progressive Retinal Atrophy (GR-PRA2)
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Kennel Club
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This test is part of the Official UK Kennel Club DNA Testing Scheme in Golden Retriever.
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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.
The retina is a thin layer of neural cells that lines the back of the eyeball. The vertebrate retina contains photoreceptor cells (rods and cones) that respond to light. The cones mediate high-resolution vision and colour vision. The rods mediate lower-resolution, black-and-white, night vision. The degeneration of the retina results in loss of vision, often leading to blindness. One can distinguish between late onset forms of PRA and early onset (whelp-age) dysplastic changes. The clinical and ophthalmologic signs of both forms are similar.
Affected dogs suffer from bilateral Mydriasis, the reflection of the Tapetum lucidum is increased and the retinal vascular network appears atrophic. Currently, there is no treatment for the disease.
Golden Retriever:
Three different mutations causing PRA have been identified in the Golden Retrievers breed: the well-known prcd-PRA , the GR_PRA1 mutation and
GR_PRA2 which were recently identified by researchers of the Animal Health Trust and the university of Uppsala.
LABOKLIN offers DNA testing for all three mutations individually in addition to a special discounted offer for the combined testing of the three mutation. Details of the special offer can be found on this link: Golden Retriever PRA Special offer. |
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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 Progressive Retinal Atrophy (GR-PRA2). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / GR-PRA2 [ 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 Progressive Retinal Atrophy (GR-PRA2) 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: GR-PRA2 / GR-PRA2 [ 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 Progressive Retinal Atrophy (GR-PRA2) and will pass the mutant gene to its entire offspring
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Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
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3 ) Progressive Retinal Atrophy (prcd-PRA): (8094P / 8127)
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Kennel Club: results of this test is accepted by the Kennel Club
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Breeds
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American Cocker Spaniel
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American Eskimo
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Australian cattle dog
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Australian Shepherd
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Australian Stumpy Tail Cattle Dog
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Australian Stumpy tail cattle Dog
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Barbet (French Water Dog)
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Bearded Collie
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Bolognese
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Bolonka Zwetna
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Chesapeake Bay Retriever
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Chihuahua
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Chinese Crested
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Cockapoo (English)
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Cockapoo (American)
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Cocker Spaniel
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Dwarf poodle
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English Cocker Spaniel
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English shepherd
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Entlebuch Mountain dog
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Finnish Lapphund
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German Spitz
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Giant Schnauzer
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Golden Retriever
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Jack Russell Terrier
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Karelian Bear Dog
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Kuvasz
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Labradoodle
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Labrador Retriever
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Lagotto Romagnolo
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Lapponian Herder
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Markiesje
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Miniature Poodle
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Miniature American Shepherd
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Norwegian Elkhound
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Nova Scotia Duck tolling Retriever ( NSDTR )
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Parson Russell Terrier (PRT)
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Poodle
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Portuguese Waterdog
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Schipperke
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Australian Silky Terrier
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Spanish Water Dog
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Standard Poodle
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Swedish Lapp Hund
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Toy Poodle
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Waeller (Wäller)
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Yorkshire 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 American Cocker Spaniel , Australian cattle dog , Australian Shepherd , Barbet (French Water Dog) , Chesapeake Bay Retriever , Chinese Crested , Cocker Spaniel , English Cocker Spaniel , Entlebuch Mountain dog , Finnish Lapphund , Giant Schnauzer , Labrador Retriever , Miniature Poodle , Norwegian Elkhound , Nova Scotia Duck tolling Retriever ( NSDTR ) , Portuguese Waterdog , Spanish Water Dog , Standard Poodle , and Toy Poodle.
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The Disease |
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Progressive retinal atrophy (PRA) as an inherited disease occurs in many dog breeds and also in different forms. The form of progressive rod-cone degeneration (prcd-PRA) is a photoreceptor degeneration in dogs with varying ages of onset. This genetic disorder causes the degeneration of retinal cells in the eye: firstly, rod cells are affected, thus leading to progressive night blindness. Secondly, degeneration of the cone cells results in complete blindness of the dog, even in full light situations during the day.
Age of onset of clinical symptoms is typically in early adolescence or early adulthood. However, the onset of the disease may vary among different dog breeds.
Since diagnosis of retinal diseases in dogs may prove difficult, the genetic test on prcd-PRA helps to diagnose a specific disease and is also a useful tool for breeders to eliminate the mutated gene from the dog population.
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Trait of Inheritance |
The mutation in the PRCD gene which has been suggested to cause prcd-PRA has recently been published by the group of Gustavo D. Aguirre at the University of Pennsylvania, USA, and could be found in several dog breeds.
Prcd-PRA is inherited as an autosomal recessive trait. So there are three conditions a dog can be: it can be clear (genotype N/N or homozygous normal) meaning that it does not carry the mutation and will not develop the prcd-form of PRA. Since it also cannot pass the mutation onto its offspring, it can be mated to any other dog.
A dog which has one copy of the PRCD gene with the mutation and one copy without the mutation is called a carrier or heterozygous (genotype N/PRA); while it will not be affected by prcd-PRA, it can pass the mutation onto its offspring and should therefore only be mated to clear dogs.
Dogs that develop this form of PRA have two PRCD gene copies with the mutation (genotype PRA/PRA or homozygous affected); they will always pass the mutated gene onto their offspring and should also be mated only to clear dogs.. |
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 Progressive Retinal Atrophy (prcd-PRA): (8094P / 8127). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / PRA [ 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 Progressive Retinal Atrophy (prcd-PRA): (8094P / 8127) 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: PRA / PRA [ 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 Progressive Retinal Atrophy (prcd-PRA): (8094P / 8127) and will pass the mutant gene to its entire offspring
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Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
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4 ) Ichthyosis *
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Kennel Club DNA Testing Scheme |
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Official UK Kennel Club DNA testing scheme in Golden Retriever from January 2014
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Kennel Club
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This test is part of the Official UK Kennel Club DNA Testing Scheme in Golden Retriever.
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The Disease |
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Ichthyosis is a genetic disease causing dysfunction of the keratin in the skin, which leads to the production of large, differently pigmented skin scales. Due to the fish-like look of this scales the name was formed from the Greek word for fish: „Ichthýs“. Additionally, the pigmentation of the skin can be altered.
Dogs which are affected by this dermatosis develop first symptoms soon after birth. Unfortunately, there is no treatment for this disease. In some cases, formation of scales decreases in old dogs. |
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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 Ichthyosis *. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / Ichthyosis [ 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 Ichthyosis * 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: Ichthyosis / Ichthyosis [ 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 Ichthyosis * and will pass the mutant gene to its entire offspring
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Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
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5 ) Muscular Dystrophy (MD)
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Breeds
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Cavalier King Charles Spaniel
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Golden Retriever
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Norfolk Terrier
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The Disease |
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Muscular Dystrophy (MD) 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.
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Trait of Inheritance |
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Muscular Dystrophy (MD) is transmitted as an X-chromosomal recessive trait. This means that a dog can be genetically clear (also called homozygous normal), heterozygous (carries one copy of the defective gene) or affected (carries two copies of the defective gene) concerning MD. Heterozygous male dogs and homozygous female dogs will get symptoms of this disease. Reliable information of dogs that do not carry disease genes (particularly female dogs) is the key to control this disease.
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Inheritance : X-LINKED
RECESSIVE
trait
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Sire |
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Dam |
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Offspring |
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Males |
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Females |
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clear
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clear
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100% clear
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100% clear
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clear
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carrier
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50% clear + 50%
affected
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50% clear + 50%
carriers
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clear
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affected
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100% affected
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100% carriers
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affected
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clear
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100% clear
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100% carriers
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affected
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carrier
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50% affected + 50% clear
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50% affected + 50%
carriers
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affected
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affected
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100% affected
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100% affected
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Male:
Clear
Genotype: N [ normal ]
The dog is noncarrier of the mutant gene.
The dog will never develop Muscular Dystrophy (MD) and therefore it can be used in breeding and should only be bred to clear females.
Affected
Genotype: MD [ mutant ]
The dog carries the mutant gene and will pass it its entire female offspring.
The dog will develop Muscular Dystrophy (MD) and will pass the mutant gene to its entire female offspring
Female:
Clear
Genotype: N / N [ Homozygous normal ]
The dog is noncarrier of the mutant gene.
The dog will never develop Muscular Dystrophy (MD) and therefore it can be used in breeding and should only be bred to clear females.
Carrier
Genotype: N / MD [ Heterozygous ]
The dog carries one copy of the mutant gene and one
copy of the normal gene.
The dog will never develop Muscular Dystrophy (MD) but since it carries the mutant gene, it can pass it on to its offspring.
Affected
Genotype: MD / MD [ 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 will develop Muscular Dystrophy (MD) and will pass the mutant gene to its entire female offspring
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Description |
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This is a mutation-based gene test, which offers many advantages over other methods
The genetic defect leading to the disease has been identified. 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, as carriers are able to spread the disease in the population, but can not be identified by means of common laboratory diagnostic.
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Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
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6 ) Neuronal Ceroid Lipofuscinosis ( CL / NCL )
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Breeds
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American Bulldog
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American Staffordshire Terrier
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Australian Shepherd
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Border collie
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Chihuahua
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Chinese Crested
,
Dachshund
,
English Setter
,
Golden Retriever
,
Gordon Setter
,
Miniature Wire haired Dachshund
,
Miniature American Shepherd
,
Miniature Long Haired Dachshund
,
Miniature Smooth Haired Dachshund
,
Saluki
,
Standard Long Haired Dachshund
,
Standard Smooth Haired Dachshund
,
Standard Wirehaired Dachshund
,
Tibetan 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 Border collie , English Setter , Saluki , and Tibetan Terrier.
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The Disease |
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The clinical course includes increasing levels of agitation and possible outbursts of aggression, hallucinations, hyperactivity and epileptic fits. Most animals lose their ability to coordinate everyday muscular activities. As the extent of neurodegeneration increases, all affected dogs develop psychological abnormalities and ataxia.
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Trait of Inheritance |
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Ceroid lipofuscinosis in Border Collies and American Bulldogs is an inherited autosomal recessive trait. This means that a dog can be clear (homozygous normal), affected, or a carrier (heterozygous). The carriers can spread the diseased gene in the population. Therefore, reliable information on non-affected dogs is the key to controlling this disease.
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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 Neuronal Ceroid Lipofuscinosis ( CL / NCL ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / NCL [ 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 Neuronal Ceroid Lipofuscinosis ( CL / NCL ) 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: NCL / NCL [ 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 Neuronal Ceroid Lipofuscinosis ( CL / NCL ) and will pass the mutant gene to its entire offspring
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Description |
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The mutation-based gene test and its advantages
The genetic defect leading to the disease has been identified. 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 not only between affected and clear dogs, but also to identify clinically healthy carriers. This is an essential information for controlling the disease in the breed, as carriers are able to spread the disease in the population, but can not be identified by means of common laboratory diagnostic. * Please note that NCL in American Staffordhsire Terrier is run by a partner lab
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Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
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Price
for the above 6 tests
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£ 156.00 (including VAT)
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| To order:
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Download
Order Form from this link 
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Complete the order form and send it together
with your samples to the following address:
Laboklin (UK), 125 Northenden Road, Manchester, M33 3HF
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