LABOKLIN (UK)| Genetic Diseases | Dogs| Brittle Bone Disease (Osteogenesis Imperfecta)
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Brittle Bone Disease (Osteogenesis Imperfecta)

Test number: 8215 (this test number replaces the old 8215D)
Gene: OI
Price: £ 48.00 (including VAT)
Breeds
Beagle , Golden Retriever , Miniature Wire haired Dachshund , Miniature Smooth Haired Dachshund , Standard Smooth Haired Dachshund , Standard Wirehaired Dachshund .
The Disease
Osteogenesis Imperfecta is a generalized, inherited bone defect characterized by extreme fragility of bones and loose joints. The bones can break easily, sometimes they break for no known reason. The long bones are slender and have thin cortices. Calluses and recent fractures may be present. The disease can also cause weak muscles, brittle teeth, curved spine and hearing loss. The cause of the disease is a gene defect that affects how the body makes collagen, a protein that helps make bones strong
Clinical Signs
Clinical signs include pain, spontaneous bone and teeth fractures, loose joints, and reduced bone density on radiography. Primary teeth are extremely thin-walled and brittle Osteogenesis imperfecta can range from mild to severe and symptoms vary from one dog to another.
Trait of Inheritance
In Dachshunds, Osteogenesis imperfecta Is inherited as a autosomal recessive trait, however, in Beagle and Golden Retriever it is inherited as autosomal dominant trait.

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 Brittle Bone Disease (Osteogenesis Imperfecta). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / OI [ 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 Brittle Bone Disease (Osteogenesis Imperfecta) 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: OI / OI [ 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 Brittle Bone Disease (Osteogenesis Imperfecta) and will pass the mutant gene to its entire offspring
 
Further reading
Osteogenesis Imperfecta in DachshundHTML file
Canine COL1A2 mutationHTML file
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2-3 weeks
Price
£ 48.00 (including VAT)

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