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LABOKLIN (UK)| Genetic Diseases | Dogs| Cone Degeneration ( CD )
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Cone Degeneration ( CD )

Test number: 8780
Gene: CD
Price: £ 48.00 (including VAT)
Breed
German Shorthair Pointer .
The Disease
Cone degeneration (cd ) is an autosomal recessive disease affecting the German Shorthaired Pointer breed and characterized by day-blindness and absence of retinal cone function in adults. It’s symptoms are similar to the human achromatopsia.

The disease is caused by a mutation in the CNGB3 gene, which leads to Cone Degeneration (CD), which is a disease of the retina. In affected puppies cone cells start to degenerate in the puppy-stage, leading to a distinct form of day blindness. First symptoms can be recognised at the age of about 8-12 weeks. Affected puppies avoid bright light and can be painful. Vision in dim light conditions or at night stays normal. Symptoms continues to worsen as cone cell degeneration progresses over time.

Trait of Inheritance
Autosomal recessive mode of inheritance

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 Cone Degeneration ( CD ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / CD [ 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 Cone Degeneration ( CD ) 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: CD / CD [ 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 Cone Degeneration ( CD ) and will pass the mutant gene to its entire offspring
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml)
Turnaround
2-4 weeks
Price
£ 48.00 (including VAT)

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