Skeletal Dysplasia 2 (SD2)
        
            Breeds
        
    
    
                
                Relevance Rating: There is some evidence or research available  for these breeds 
                
            
            
            
                
                Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful  for these breeds 
                
            
            
        
        
        
            GTPs
        
    
    General
        
            Disease Name
        
    
    
            Skeletal Dysplasia 2 (SD2)
            
        
        
        
            OMIA
        
    
    
            1772
            
        
        
        
            Gene Name
        
    
    
            COL11A2
            
        
        
        
            Mutation
        
    
    
            c.143G>C
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            A mild form of disproportionate dwarfism, resulting in shorter limbs.
            
        
        
        
            Details 2
        
    
    
            The SD2 phenotype is characterized by short legs with normal body length and width. In most cases the forelegs are slightly more affected than the hind legs. The international breed standard calls for shoulder heights of 56 cm?57 cm in male and 54 cm?56 cm in female Labrador Retrievers, respectively. The shoulder height in affected animals is reduced by ~6 cm on average. However, it must be noted that shoulder height is only an imperfect proxy for the SD2 phenotype as shoulder height is a complex trait with significant variance due to genetic and environmental factors. According to breeders' reports SD2-affected dogs are not particurlarly prone to secondary joint degeneration or any other health problems apart from the disproportionate dwarfism. Skeletal dysplasia 2 (SD2) is a mild form of disproportionate dwarfism in Labrador Retrievers. Affected dogs have short legs and their shoulder height is reduced by ~6 cm compared to non-affected dogs. (From OMIA)
            
        
        
        
            Published
        
    
    
            Frischknecht, M., Niehof-Oellers, H., Jagannathan, V., Owczarek-Lipska, M., Drögemüller, C., Dietschi, E., Dolf, G., Tellhelm, B., Lang, J., Tiira, K., Lohi, H., Leeb, T. : A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism. PLoS One 8:e60149, 2013. Pubmed reference: 23527306. DOI: 10.1371/journal.pone.0060149.
            
        
        
        
            Body/System/Process
        
    
    
            Skeletal
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
            AR
            
        
        
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