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

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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