OMIA 002133-9615 : Skeletal dysplasia, FGF4-retrogene-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|FGF4 retrogene on CFA12||Canis lupus familiaris||-||no genomic information (-..-)||FGF4 retrogene on CFA12||Ensembl|
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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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|853||Nova Scotia Duck Tolling retriever||Skeletal dysplasia, FGF4-retrogene-related||FGF4 retrogene on CFA12||FGF4L2||insertion, gross (>20)||Naturally occurring variant||CanFam3.1||12||" 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) . . . ." 200922: g. info moved here (g.33710178_33710179insMF040221) until can be standardised||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.
|2022||Bannasch, D., Batcher, K., Leuthard, F., Bannasch, M., Hug, P., Marcellin-Little, D.J., Dickinson, P.J., Drögemüller, M., Drögemüller, C., Leeb, T. :|
|The effects of FGF4 retrogenes on canine morphology. Genes (Basel) 13:, 2022. Pubmed reference: 35205370. DOI: 10.3390/genes13020325.|
|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 37:2550-2560, 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.|
|1952||Hansen, H.J. :|
|A pathologic-anatomical study on disc degeneration in dog, with special reference to the so-called enchondrosis intervertebralis. Acta Orthop Scand Suppl 11:1-117, 1952. Pubmed reference: 14923291.|
|1951||Hansen, H.J. :|
|A pathologic-anatomical interpretation of disc degeneration in dogs. Acta Orthop Scand 20:280-93, 1951. Pubmed reference: 14894198.|
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