LABOKLIN (UK)| Genetic Diseases | Dogs| Colour dilution (dilute ) and neurological defects ( CDN )
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Colour dilution (dilute ) and neurological defects ( CDN )

Test number: 8758
Gene: CDN
Price: £ 48.00 (including VAT)
Breeds
Dachshund , Miniature Long Haired Dachshund , Miniature Smooth Haired Dachshund .
The Disease
In Miniature Dachshund, a variant in the gene MYO5A gene has been found to cause Coat Colour Dilution and Neurological Defects (CDN) resembling the human Griscelli Syndrome Type I.

An affected 4-weeks old puppy showed a diluted, light red coat colour. Despite normally developed external features, the puppy was unable to hold a normal prone position, fell on its side and rowed with the upper front legs. Furthermore, it was unable to maintain an upright head position or to coordinate head movements and hardly reacted to environmental stimuli. The histopathological findings were a multifocal accumulation of melanin and a deposition of clumped keratin in the follicular epithelium of haired skin. Due to the severity of symptoms, the puppy was euthanized. A frameshift mutation in the MYO5A gene has been identified, myosin VA- mediated transport plays a crucial role in neurons and the cerebellum and also in melanosome transport into growing hair shafts.

Trait 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 Colour dilution (dilute ) and neurological defects ( CDN ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / CDN [ 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 Colour dilution (dilute ) and neurological defects ( CDN ) 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: CDN / CDN [ 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 Colour dilution (dilute ) and neurological defects ( CDN ) and will pass the mutant gene to its entire offspring
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Price
£ 48.00 (including VAT)

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