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GM2 Gangliosidosis Variant 0 (Sandhoff Disease)
Test number: 8208
Gene: GM2 Price: £ 48.00 (including VAT)
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Breeds
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Japanese Chin
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Shiba Inu
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Toy Poodle
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Kennel Club
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This test is part of the Official UK Kennel Club DNA Testing Scheme in Shiba Inu.
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 |
GM2 gangliosidosis is a progressive neurodegenerative Lysosomal Storage disease caused by a recessive mutation. Affected dogs are unable to break down certain enzymes, which are needed to degrade neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues. Accumulation of these metabolites leads to a progressive destruction of the central nervous system. Affected dogs typically exhibit symptoms of neurologic disease around the age of 9 to 12 months. Symptoms include loss of vision, walking difficulties, loss of balance, head tremors and vomiting. Once an affected dog begins to show signs of the disease, the disease progresses rapidly and dogs usually die between the ages of 18 and 23 months.
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Trait of Inheritance |
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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 GM2 Gangliosidosis Variant 0 (Sandhoff Disease). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / GM2 [ 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 GM2 Gangliosidosis Variant 0 (Sandhoff Disease) 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: GM2 / GM2 [ 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 GM2 Gangliosidosis Variant 0 (Sandhoff Disease) and will pass the mutant gene to its entire offspring
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Price
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£ 48.00 (including VAT)
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