Chondrodystrophy (CDDY and IVDD)
            Breed: Beagle
        
        
        
        
    Generic Phene Data
        
            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 
                
            
            
        
        General
        
            Disease Name
        
    
    
            Chondrodystrophy (CDDY and IVDD)
            
        
        
        
            OMIA
        
    
    
            189
            
        
        
        
            Gene Name
        
    
    
            FGF4 retrogene insertion on Ch 12:33,710,200 Mb (canFam3)
            
        
        
        
            Mutation
        
    
    
            On Ch 12; FGF4 retrogene insertion at 33,710,200 Mb
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details 2
        
    
    
            "Chondrodystrophy in dogs is defined by dysplastic, shortened long bones and premature degeneration and calcification of intervertebral discs... Long bone length in dogs is a unique example of multiple disease-causing retrocopies of the same parental gene in a mammalian species... Extensive examination of growth plates has been performed on many of these short-legged dog breeds (dachshund, Pekingese, French bulldog, spaniels, beagle), as these breeds are also prone to intervertebral disc disease (IVDD). Histopathological analysis of the bones of puppies from these breeds demonstrated that their short stature is due to defects in endochondral ossification, the process whereby cartilage is replaced with bone, in the developing limb. The long bone growth plates show disorganization of the proliferative zone and reduction in the depth of the maturation zone. In addition to the long bones, similar but more subtle changes exist in endochondral ossification of the vertebral bodies...In chondrodystrophic dogs, the nucleus pulposus is gradually replaced by chondrocyte-like cells in chondroid metaplasia (or metamorphosis) that occurs between birth and 1 y of age. Recent studies have shown that in advanced stages of degeneration in nonchondrodystrophoid dogs there is also replacement of notochordal cells by chondrocyte-like cells, similar to the changes observed in chondrodystrophoid dogs, although this happens at an older age. Hansen described the two different types of canine IVD prolapse as type I and type II. Type I occurs exclusively in chondrodystrophic breeds and is characterized by premature degeneration of all discs in young dogs. In type I disc disease, the calcified nucleus pulposus may undergo an explosive herniation through the annulus fibrous into the vertebral canal, resulting in inflammation and hemorrhage and causing severe pain and neurological dysfunction..." [Brown et. al, 2017]
            
        
        
        
            Application Information
        
    
    
            The application of this test will vary by breed. There is research (Batcher et. al) that indicates some populations of breeds, such as dachshund varieties, are "fixed" for this mutation. This means, in practice, that there are very few dogs in the population who do not carry the mutation, and therefore it may not be possible to breed away from - e.g. all dogs who are tested are "affected." It is strongly recommended that you review the breed-specfic references provided here and/or contact your local breed club for support in breeding decisions. Many breed clubs strongly recommend you undertake a clinical examination before breeding. This is extremely valuable in identifying lower-risk dogs. If you are testing for information on your own dog, and not for breeding plans, it is important to remember that a dog who tests affected for this mutation is at risk for developing the condition, but the test is not an indication of severity, age of onset, or that the disease will manifest in the dog's lifetime. There is research indicating that there could be other factors (such as environmental factors) that impact disease development. Your breed club, breed advisor, veterinarian, or test provider should be able to provide more information.
            
        
        
        
            Published
        
    
    
            2017, Brown, E.A., Dickinson, P.J., Mansour, T., Sturges, B.K., Aguilar, M., Young, A.E., Korff, C., Lind, J., Ettinger, C.L., Varon, S., Pollard, R., Brown, C.T., Raudsepp, T., Bannasch, D.L. : FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs. Proc Natl Acad Sci U S A 114:11476-11481, 2017. Pubmed reference: 29073074. DOI: 10.1073/pnas.1709082114.
            
        
        
        
            Published 2
        
    
    
            Batcher, K., P. Dickinson, M. Giuffrida, B. Sturges, K. Vernau, M. Knipe, S. H. Rasouliha, C. Drogemuller, T. Leeb, K. Maciejczyk, C. A. Jenkins, C. Mellersh and D. Bannasch, (2019) Phenotypic Effects of FGF4 Retrogenes on Intervertebral Disc Disease in Dogs. Genes (Basel), 10,
            
        
        
        
            Body/System/Process
        
    
    
            Skeletal
            
        
        
        
            Inheritance
        
    
    
            ADIP
            
        
        Breed Specific Info
        
            Researched Breeds
        
    
    
            Alpine Dachsbracke, American Cocker Spaniel, Australian Shepherd, Basset Hound, Bavarian Mountain Hound, Beagle, Bichon Frise, Boykin Spaniel, Cardigan Welsh Corgi, Cavalier King Charles Spaniel, Chesapeake Bay Retriever, Chihuahua, Chinese Crested, Clumber Spaniel, Coton de Tulear, Dachshund, Dandie Dinmont Terrier, Danish Swedish Farmdog, English Springer Spaniel, Entlebucher Mountain Dog, French Bulldog, German Hound, Havanese, Jack Russell Terrier, Maltese, Nova Scotia Duck Tolling Retriever, Pekingese, Pembroke Welsh Corgi, Pinscher (Miniature), Poodle (Miniature and Toy), Poodle (Standard), Portuguese Water Dog, Pug, Rat Terrier, Russian Tsvetnaya Bolonka, Schweizer Laufhund, Schweizerischer Niederlaufhund, Scottish Terrier, Sealyham Terrier, Shih Tzu, Skye Terrier, and Yorkshire Terrier
            
        
        
        
            Breed-specific 1
        
    
    
            ALL BREEDS TESTING FOR THIS MUTATION
            
        
        
        
            Breed-specific 1 Details
        
    
    
        
            Breed-specific 2
        
    
    
            Dachschund (all varieties)
            
        
        HSP Test-Specific Data
EVG Diagnostics
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            EVG Molecular Diagnostics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            FGF4
            
        
        
        
            Mutation
        
    
    
            Chromasome 12
            
        
        Genomia s.r.o
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Genomia s.r.o
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            CDDY Chrondrodystrophy, IVVD risk & CDPA
            
        
        
        
            Gene Name
        
    
    
            FGF4
            
        
        
        
            Mutation
        
    
    
            Chromasome 12
            
        
        
        
            Mutation Comment
        
    
    
            insertion on CFA12 is 3,209 bp long
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        VetGen LLC
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            VetGen LLC
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            CDDY Chrondrodystrophy, IVVD risk & CDPA
            
        
        
        
            Gene Name
        
    
    
            FGF4
            
        
        
        
            Mutation
        
    
    
            Chromasome 12
            
        
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