OMIA 001081-9823 : Muscular dystrophy, Duchenne type in Sus scrofa

In other species: dog , domestic cat

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 310200 (trait) , 300377 (gene)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific description: Variants giving rise to this trait in pigs have been created artificially: Genetically-modifed organism; GMO.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
DMD dystrophin Sus scrofa X NC_010461.5 (29650728..27028223) DMD Homologene, Ensembl, NCBI gene


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.
2021 Gaina, G., Popa Gruianu, A. :
Muscular dystrophy: Experimental animal models and therapeutic approaches (Review). Exp Ther Med 21:610, 2021. Pubmed reference: 33936267. DOI: 10.3892/etm.2021.10042.
Kupatt, C., Windisch, A., Moretti, A., Wolf, E., Wurst, W., Walter, M.C. :
Genome editing for Duchenne muscular dystrophy: a glimpse of the future? Gene Ther :, 2021. Pubmed reference: 33531685. DOI: 10.1038/s41434-021-00222-4.
2020 Moretti, A., Fonteyne, L., Giesert, F., Hoppmann, P., Meier, A.B., Bozoglu, T., Baehr, A., Schneider, C.M., Sinnecker, D., Klett, K., Fröhlich, T., Rahman, F.A., Haufe, T., Sun, S., Jurisch, V., Kessler, B., Hinkel, R., Dirschinger, R., Martens, E., Jilek, C., Graf, A., Krebs, S., Santamaria, G., Kurome, M., Zakhartchenko, V., Campbell, B., Voelse, K., Wolf, A., Ziegler, T., Reichert, S., Lee, S., Flenkenthaler, F., Dorn, T., Jeremias, I., Blum, H., Dendorfer, A., Schnieke, A., Krause, S., Walter, M.C., Klymiuk, N., Laugwitz, K.L., Wolf, E., Wurst, W., Kupatt, C. :
Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of Duchenne muscular dystrophy. Nat Med 26:207-214, 2020. Pubmed reference: 31988462. DOI: 10.1038/s41591-019-0738-2.
Tamiyakul, H., Kemter, E., Kösters, M., Ebner, S., Blutke, A., Klymiuk, N., Flenkenthaler, F., Wolf, E., Arnold, G.J., Fröhlich, T. :
Progressive proteome changes in the myocardium of a pig model for Duchenne muscular dystrophy. iScience 23:101516, 2020. Pubmed reference: 32927262. DOI: 10.1016/j.isci.2020.101516.
2019 Su, X., Chen, W., Cai, Q., Liang, P., Chen, Y., Cong, P., Huang, J. :
Production of non-mosaic genome edited porcine embryos by injection of CRISPR/Cas9 into germinal vesicle oocytes. J Genet Genomics 46:335-342, 2019. Pubmed reference: 31378649. DOI: 10.1016/j.jgg.2019.07.002.
2016 Fröhlich, T., Kemter, E., Flenkenthaler, F., Klymiuk, N., Otte, K.A., Blutke, A., Krause, S., Walter, M.C., Wanke, R., Wolf, E., Arnold, G.J. :
Progressive muscle proteome changes in a clinically relevant pig model of Duchenne muscular dystrophy. Sci Rep 6:33362, 2016. Pubmed reference: 27634466. DOI: 10.1038/srep33362.
Yu, H.H., Zhao, H., Qing, Y.B., Pan, W.R., Jia, B.Y., Zhao, H.Y., Huang, X.X., Wei, H.J. :
Porcine zygote injection with Cas9/sgRNA results in DMD-modified pig with muscle dystrophy. Int J Mol Sci 17:1668, 2016. Pubmed reference: 27735844. DOI: 10.3390/ijms17101668.
2013 Klymiuk, N., Blutke, A., Graf, A., Krause, S., Burkhardt, K., Wuensch, A., Krebs, S., Kessler, B., Zakhartchenko, V., Kurome, M., Kemter, E., Nagashima, H., Schoser, B., Herbach, N., Blum, H., Wanke, R., Aartsma-Rus, A., Thirion, C., Lochmüller, H., Walter, M.C., Wolf, E. :
Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle. Hum Mol Genet 22:4368-82, 2013. Pubmed reference: 23784375. DOI: 10.1093/hmg/ddt287.

Edit History

  • Created by Frank Nicholas on 17 Oct 2016
  • Changed by Imke Tammen2 on 09 Apr 2021