OMIA 002274-9615 : Muscular dystrophy, Ullrich type, COL6A3-related in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 254090 (trait) , 120250 (gene)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2020

Species-specific description: see also 'Muscular dystrophy, Ullrich type, COL6A1-related in Canis lupus familiaris' for similar disease in Landseer dogs

Breed: Labrador Retriever.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
COL6A3 collagen, type VI, alpha 3 Canis lupus familiaris 25 NC_051829.1 (48438226..48356794) COL6A3 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
1208 Labrador Retriever Muscular dystrophy, COL6A3-related COL6A3 splicing Naturally occurring variant CanFam3.1 25 g.48007994C>T c.6210+1G>A CanFam3.1 chr25:48,007,994C > T; NM_001103215.1 c.6210 + 1G > A (Bolduc et al., 2020) 2020 32439203
1207 Labrador Retriever Muscular dystrophy, COL6A3-related COL6A3 nonsense (stop-gain) Naturally occurring variant CanFam3.1 25 g.48014962G>A c.4726C>T p.(R1576*) CanFam3.1 chr25:48,014,962G > A; NM_001103215.1 c.4726C > T, p.R1576* (Bolduc et al., 2020) 2020 32439203

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.
2020 Bolduc, V., Minor, K.M., Hu, Y., Kaur, R., Friedenberg, S.G., Van Buren, S., Guo, L.T., Glennon, J.C., Marioni-Henry, K., Mickelson, J.R., Bönnemann, C.G., Shelton, G.D. :
Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs. Neuromuscul Disord 30:360-7, 2020. Pubmed reference: 32439203. DOI: 10.1016/j.nmd.2020.03.005.
2013 Marioni-Henry, K., Haworth, P., Scott, H., Witte, P., Guo, L.T., Shelton, G.D. :
Sarcolemmal specific collagen VI deficient myopathy in a Labrador Retriever. J Vet Intern Med 28:243-9, 2013. Pubmed reference: 24147807. DOI: 10.1111/jvim.12224.

Edit History


  • Created by Frank Nicholas on 02 Jun 2020
  • Changed by Imke Tammen2 on 18 May 2022