OMIA 002133-9615 : Skeletal dysplasia, FGF4-retrogene-related in Canis lupus familiaris
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Nova Scotia Duck Tolling retriever||Skeletal dysplasia, FGF4-retrogene-related||FGF4||insertion, gross (>20)||CanFam 3||12||g.33710178_33710179insMF040221||" the insertion on CFA12 is 3,209 bp long (GenBank accession no. MF040221) and includes parental FGF4 cDNA (i.e., FGF4 exons spliced without introns) . . . ."||2017||29073074|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2019||Tellegen, A.R., Dessing, A.J., Houben, K., Riemers, F.M., Creemers, L.B., Mastbergen, S.C., Meij, B.P., Miranda-Bedate, A., Tryfonidou, M.A. :|
|The dog as a model for osteoarthritis: the FGF4 retrogene insertion may matter. J Orthop Res :, 2019. Pubmed reference: 31373395. DOI: 10.1002/jor.24432.|
|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.|
|1975||Braund, K.G., Ghosh, P., Taylor, T.K.F., Larsen, L.H. :|
|Morphological studies of the canine intervertebral disc: the assignment of the Beagle to the achondroplastic classification Research in Veterinary Science 19:167-172, 1975. Pubmed reference: 1166121.|
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