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OMIA 001130-9615 : Leukodystrophy in Canis lupus familiaris

In other species: American mink , sheep

Mendelian trait/disorder: yes

Mode of inheritance: Mitochondrial

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2006

Species-specific name: canine spongiform leukoencephalomyelopathy

Molecular basis: Li et al. (2006) showed that this disorder is due to a missense variant in the mitochondrial gene for cytochrome b. The variant is a G>A transition as position 14,474 of the mitochondrial genome (NC_002008) predicted to result is a p.V98M substitution on the protein level. This is the first report in domesticated animals of a naturally-occurring base substitution in a mitochondrial gene, leading to an inherited disorder

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CYTB cytochrome b Canis lupus familiaris MT NC_002008.4 (14183..15322) CYTB 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
52 Australian Cattle Dog Shetland Sheepdog Leucodystrophy CYTB missense Naturally occurring variant CanFam3.1 M m.14474G>A c.14474G>A p.(V98M) 2006 16026996 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
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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.
2006 Li, FY., Cuddon, PA., Song, J., Wood, SL., Patterson, JS., Shelton, GD., Duncan, ID. :
Canine spongiform leukoencephalomyelopathy is associated with a missense mutation in cytochrome b. Neurobiol Dis 21:35-42, 2006. Pubmed reference: 16026996. DOI: 10.1016/j.nbd.2005.06.009.
2001 Wood, S.L., Patterson, J.S. :
Shetland Sheepdog leukodystrophy Journal of Veterinary Internal Medicine 15:486-493, 2001. Pubmed reference: 11596738.
1977 Bjerkas, I. :
Hereditary 'cavitating' leucodystrophy in Dalmatian dogs: light and electron microscopic studies Acta Neuropathologia 40:163-169, 1977.

Edit History


  • Created by Frank Nicholas on 12 Jun 2006
  • Changed by Frank Nicholas on 28 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 05 Dec 2012
  • Changed by Tosso Leeb on 29 May 2013
  • Changed by Frank Nicholas on 04 Nov 2020