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

Mode of inheritance: X-linked recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2013

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

Breed: Yucatan miniature pig.

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

Variants

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 Inferred EVA rsID 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

References


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 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 :, 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.
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
  • Changed by Imke Tammen2 on 16 Dec 2021
  • Changed by Imke Tammen2 on 25 Dec 2021
  • Changed by Imke Tammen2 on 30 Jan 2022