OMIA 001594-9615 : Hyperekplexia (Startle disease) in Canis lupus familiaris |
Possibly relevant human trait(s) and/or gene(s) (MIM number):
149400
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2011
Cross-species summary:
Also known as startle disease
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| SLC6A5 | solute carrier family 6 (neurotransmitter transporter), member 5 | Canis lupus familiaris | 21 | NC_006603.3 (42581931..42639870) | SLC6A5 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Irish Wolfhound | Hyperekplexia (Startle disease) | SLC6A5 | deletion, gross (>20) | "a homozygous 4.2kb microdeletion encompassing exons 2 and 3 " | 2011 | 21420493 |
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.
| 2011 | Gill, JL., Capper, D., Vanbellinghen, JF., Chung, SK., Higgins, RJ., Rees, MI., Shelton, GD., Harvey, RJ. : | |
| Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene. Neurobiol Dis 43:184-9, 2011. Pubmed reference: 21420493. DOI: 10.1016/j.nbd.2011.03.010. | ||
| 1984 | Fox, J.G., Averill, D.R., Hallett, M., Schunk, K. : | |
| Familial reflex myoclonus in Labrador Retrievers. Am J Vet Res 45:2367-70, 1984. Pubmed reference: 6524730. |
Edit History
- Created by Frank Nicholas on 01 Aug 2011
- Changed by Frank Nicholas on 10 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011