LABOKLIN (UK)| Genetic Diseases | Dogs| Acral Mutilation Syndrome ( AMS )
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Acral Mutilation Syndrome ( AMS )

Test number: 8038
Gene Name: GDNF (Spaniels & Pointers), RETREG1 (Spitz)
Short Name: AMS
Price: £ 48.00 (including VAT)
Breeds
Cockapoo (English) , English Cocker Spaniel , English Pointer , English Springer Spaniel , French Spaniel , German Shorthair Pointer , German Spitz (Mittel) , Sprocker Spaniel .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in English Cocker Spaniel, and English Springer Spaniel.

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.

Description

Acral Mutilation Syndrome (AMS)

Acral Mutilation Syndrome (AMS) is an inherited sensory neuropathy affecting several sporting and companion breeds. The condition is characterised by insensitivity to pain in the feet (acral analgesia), while proprioception, motor abilities and spinal reflexes remain intact. Affected puppies often appear smaller than their healthy littermates.

Early signs include sudden and intense licking, biting or chewing of the paws and toes, which may progress to severe self mutilation. Secondary complications such as ulceration, infections, nail loss, swollen paws and fractures may follow. AMS belongs to the group of hereditary sensory and autonomic neuropathies.

Breeds: Cockapoo, English Cocker Spaniel, English Pointer, English Springer Spaniel, French Spaniel, German Short haired Pointing Dog, German Spitz

Acral Mutilation Syndrome – Spaniel and Pointer Breeds (GDNF variant)

In breeds such as English Cocker Spaniel, English Pointer, English Springer Spaniel, French Spaniel and German Shorthaired Pointer, symptoms typically begin around four months of age. Puppies may lick, bite or injure their paws and toes despite normal proprioception, motor function and spinal reflexes. Some affected dogs show only pain insensitivity without obvious self mutilation, making diagnosis more challenging.

  • Age of onset: 4 months
  • Gene: GDNF
  • Mutation: C to T
  • Literature: OMIA 001514 9615

Acral Mutilation Syndrome – German Spitz (RETREG1 variant)

In German Spitz breeds, including Pomeranian and Miniature Spitz, AMS usually appears between six and nine months of age. Early signs may include persistent licking of a paw, progressing to loss of pain response, chronic skin injuries and self mutilation of toes. Severe cases may result in spontaneous or surgical toe amputations. Gait abnormalities and proprioceptive deficits may develop in later stages.

  • Age of onset: 6 to 9 months
  • Gene: RETREG1

Important Note

Although both genetic variants are listed under Test 8038, only the variant relevant to the breed submitted will be performed.

Trait of Inheritance
Recessive trait of inheritance, which means that a dog must inherit two copies of the mutation (one from each parent) to become genetically affected.

Inheritance : AUTOSOMAL RECESSIVE trait


 

Sire

 

Dam

 

Offspring

         
clear
clear
100% clear
         
clear
carrier
50%  clear + 50% carriers
         
clear
affected
100% carriers
         
carrier
clear
50%  clear + 50% carriers
         
carrier
carrier
25% clear + 25% affected + 50% carriers
         
carrier
affected
50% carriers + 50% affected
         
affected
clear
100%  carriers
         
affected
carrier
50% carriers + 50% affected
         
affected
affected
100% affected

 


Clear

Genotype: N / N [ Homozygous normal ]

The dog is noncarrier of the mutant gene.

It is very unlikely that the dog will develop Acral Mutilation Syndrome ( AMS ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / AMS [ 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 Acral Mutilation Syndrome ( AMS ) 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: AMS / AMS [ 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 Acral Mutilation Syndrome ( AMS ) and will pass the mutant gene to its entire offspring
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1-2 weeks
Price
£ 48.00 (including VAT)

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