OMIA 001130-9615 : Leucodystrophy in Canis lupus familiaris |
In other species:
American mink
Mendelian trait/disorder:
yes
Mode of inheritance:
Maternal
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.
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| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Australian Cattle Dog Shetland Sheepdog | Leucodystrophy | CYTB | missense | 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 |
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