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

In other species: dog , domestic cat

Categories: Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 310200 (trait) , 300377 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: X-linked recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2013

Cross-species summary: Variants in the DMD gene may give rise to phenotypes with different severity. True null alleles cause the more severe Duchenne muscular dystrophy, while alleles with partial remaining protein function give rise to the milder Becker muscular dystrophy (OMIA 001888).

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

Genetic engineering: Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breed: Yucatan Miniature, United States of America (Pig) (VBO_0013234).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

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


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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 Year Published PubMed ID(s) Acknowledgements
1395 Duchenne muscular dystrophy DMD DMD^ex52del delins, gross (>20) Transgenesis via somatic cell nuclear transfer (SCNT) X gene targeting and somatic cell nuclear transfer was used to replace DMD exon 52 with a neomycin resistance cassette 2013 23784375

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001081-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2024 Otake, M., Imamura, M., Enya, S., Kangawa, A., Shibata, M., Ozaki, K., Kimura, K., Ono, E., Aoki, Y. :
Severe cardiac and skeletal manifestations in DMD-edited microminipigs: an advanced surrogate for Duchenne muscular dystrophy. Commun Biol 7:523, 2024. Pubmed reference: 38702481. DOI: 10.1038/s42003-024-06222-5.
Stirm, M., Klymiuk, N., Nagashima, H., Kupatt, C., Wolf, E. :
Pig models for translational Duchenne muscular dystrophy research. Trends Mol Med :S1471-4914(24)00101-1, 2024. Pubmed reference: 38749865. DOI: 10.1016/j.molmed.2024.04.013.
2023 Okamoto, K., Matsunari, H., Nakano, K., Umeyama, K., Hasegawa, K., Uchikura, A., Takayanagi, S., Watanabe, M., Ohgane, J., Stirm, M., Kurome, M., Klymiuk, N., Nagaya, M., Wolf, E., Nagashima, H. :
Phenotypic features of genetically modified DMD-X KO X WT pigs. Regen Ther 24:451-458, 2023. Pubmed reference: 37772130. DOI: 10.1016/j.reth.2023.09.010.
Stirm, M., Shashikadze, B., Blutke, A., Kemter, E., Lange, A., Stöckl, J.B., Jaudas, F., Laane, L., Kurome, M., Keßler, B., Zakhartchenko, V., Bähr, A., Klymiuk, N., Nagashima, H., Walter, M.C., Wurst, W., Kupatt, C., Fröhlich, T., Wolf, E. :
Systemic deletion of DMD exon 51 rescues clinically severe Duchenne muscular dystrophy in a pig model lacking DMD exon 52. Proc Natl Acad Sci U S A 120:e2301250120, 2023. Pubmed reference: 37428903. DOI: 10.1073/pnas.2301250120.
Watanabe, M., Miyamoto, H., Okamoto, K., Nakano, K., Matsunari, H., Kazuki, K., Hasegawa, K., Uchikura, A., Takayanagi, S., Umeyama, K., Hiramuki, Y., Kemter, E., Klymuik, N., Kurome, M., Kessler, B., Wolf, E., Kazuki, Y., Nagashima, H. :
Phenotypic features of dystrophin gene knockout pigs harboring a human artificial chromosome containing the entire dystrophin gene. Mol Ther Nucleic Acids 33:444-453, 2023. Pubmed reference: 37588685. DOI: 10.1016/j.omtn.2023.07.021.
2022 Stirm, M., Fonteyne, L.M., Shashikadze, B., Stöckl, J.B., Kurome, M., Keßler, B., Zakhartchenko, V., Kemter, E., Blum, H., Arnold, G.J., Matiasek, K., Wanke, R., Wurst, W., Nagashima, H., Knieling, F., Walter, M.C., Kupatt, C., Fröhlich, T., Klymiuk, N., Blutke, A., Wolf, E. :
Pig models for Duchenne muscular dystrophy - from disease mechanisms to validation of new diagnostic and therapeutic concepts. Neuromuscul Disord 32:543-556, 2022. Pubmed reference: 35659494. DOI: 10.1016/j.nmd.2022.04.005.
2021 Echigoya, Y., Trieu, N., Duddy, W., Moulton, H.M., Yin, H., Partridge, T.A., Hoffman, E.P., Kornegay, J.N., Rohret, F.A., Rogers, C.S., Yokota, T. :
A dystrophin exon-52 deleted miniature pig model of Duchenne muscular dystrophy and evaluation of exon skipping. Int J Mol Sci 22:13065, 2021. Pubmed reference: 34884867. DOI: 10.3390/ijms222313065.
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 28:542-8, 2021. Pubmed reference: 33531685. DOI: 10.1038/s41434-021-00222-4.
Maynard, L.H., Humbert, O., Peterson, C.W., Kiem, H.P. :
Genome editing in large animal models. Mol Ther 29:3140-3152, 2021. Pubmed reference: 34601132. DOI: 10.1016/j.ymthe.2021.09.026.
Stirm, M., Fonteyne, L.M., Shashikadze, B., Lindner, M., Chirivi, M., Lange, A., Kaufhold, C., Mayer, C., Medugorac, I., Kessler, B., Kurome, M., Zakhartchenko, V., Hinrichs, A., Kemter, E., Krause, S., Wanke, R., Arnold, G.J., Wess, G., Nagashima, H., Hrabĕ de Angelis, M., Flenkenthaler, F., Kobelke, L.A., Bearzi, C., Rizzi, R., Bähr, A., Reese, S., Matiasek, K., Walter, M.C., Kupatt, C., Ziegler, S., Bartenstein, P., Fröhlich, T., Klymiuk, N., Blutke, A., Wolf, E. :
A scalable, clinically severe pig model for Duchenne muscular dystrophy. Dis Model Mech 14, 2021. Pubmed reference: 34796900. DOI: 10.1242/dmm.049285.
Tanihara, F., Hirata, M., Otoi, T. :
Current status of the application of gene editing in pigs. J Reprod Dev 67:177-187, 2021. Pubmed reference: 33840678. DOI: 10.1262/jrd.2021-025.
Zou, X., Ouyang, H., Pang, D., Han, R., Tang, X. :
Pathological alterations in the gastrointestinal tract of a porcine model of DMD. Cell Biosci 11:131, 2021. Pubmed reference: 34266495. DOI: 10.1186/s13578-021-00647-9.
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.
2018 Matsunari, H., Watanabe, M., Nakano, K., Enosawa, S., Umeyama, K., Uchikura, A., Yashima, S., Fukuda, T., Klymiuk, N., Kurome, M., Kessler, B., Wuensch, A., Zakhartchenko, V., Wolf, E., Hanazono, Y., Nagaya, M., Umezawa, A., Nakauchi, H., Nagashima, H. :
Modeling lethal X-linked genetic disorders in pigs with ensured fertility. Proc Natl Acad Sci U S A 115:708-713, 2018. Pubmed reference: 29311328. DOI: 10.1073/pnas.1715940115.
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
  • Changed by Imke Tammen2 on 16 Dec 2021
  • Changed by Imke Tammen2 on 25 Dec 2021
  • Changed by Imke Tammen2 on 30 Jan 2022
  • Changed by Imke Tammen2 on 13 Jan 2023
  • Changed by Imke Tammen2 on 19 Jan 2023
  • Changed by Imke Tammen2 on 17 Jul 2023
  • Changed by Imke Tammen2 on 18 Aug 2023
  • Changed by Imke Tammen2 on 12 Dec 2023