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  • Title: Achondroplastic dog breeds have no mutations in the transmembrane domain of the FGFR-3 gene.
    Author: Martínez S, Valdés J, Alonso RA.
    Journal: Can J Vet Res; 2000 Oct; 64(4):243-5. PubMed ID: 11041504.
    Abstract:
    One of the most common skeletal affections in humans is achondroplasia, a short-limbed dwarfism that is, in most cases, caused by mutations in the transmembrane domain of the fibroblast growth factor receptor-3 (FGFR-3) gene. Due to the lack of sufficient radiological, genetic, and molecular studies, most types of skeletal anomalies in dogs are classified as achondroplasia. To initiate the molecular characterization of some osteochondrodysplastic dog breeds, we obtained the DNA sequence of the transmembrane domain of the FGFR-3 gene from the dachshund, basset hound, bulldog, and German shepherd dogs. All 4 breeds showed no mutation in the evaluated region. This indicates that the mutation responsible for the osteochondrodysplastic phenotype in the tested dog breeds lies either elsewhere in the FGFR-3 gene or in other ones involved in the formation and development of endochondral bone.
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