In other species: domestic cat

Categories: Skeleton phene (incl. short stature & teeth)

Possibly relevant human trait(s) and/or gene(s) (MIM number): 184300 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific description: This is a multifactorial disorder assessed via a radiograph. It appears to be positively correlated to hip dysplasia.

Inheritance: This is a multifactorial disorder. Using radiographic data from 353 offspring of 24 sires in the Boxer breed, Langeland and Lingaas (1995) estimated heritability from half-sib correlation and from offspring-parent regression. For maximum degree of osteophyte development, the estimates were 0.42 and 0.62, respectively. For the number of affected discs, the estimates were 0.47 and 0.13, respectively. The same authors also observed a positive phenotypic correlation between spondylosis deformans and hip dysplasia.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Control: The intermediate values of heritability indicate that selection against the disorder will be successful in reducing the incidence and severity of the disorder, as judged from radiographs. We cannot be certain that this would be translated into reduced incidence of the clinical signs, but it is likely that this would happen. If the positive phenotypic correlation between this disorder and hip dysplasia (also assessed via a radiograph) is a reflection of a positive genetic correlation, then selection against this disorder will automatically select against hip dysplasia as well, which is good news. However, breeders must realise that in each case, they are selecting on the basis of a radiograph, rather than on clinical signs, and that the genetic parameters (heritabilities, correlations) have been obtained from radiographic data, rather than from clinical signs. Unfortunately, there are still no estimates available of genetic parameters for either spondylosis deformans or hip dysplasia. It must be a fairly safe bet, however, that they would not be too different from those that have been obtained from radiographic data. In the immediate future, we have no option but to make this assumption, and then act on it.

Breed: Boxer (Dog) (VBO_0200210).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below