O-Store

Startle Hyperekplexia (Wolfhound Type) Overview

Startle Hyperekplexia (Wolfhound Type)
US$ 75.00 RRP
US$ 67.50 REGISTERED USER PRICE
ADD TO CART

Category: Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene: Solute carrier family 6 member 5 (SLC6A5) on Chromosome 21

Variant Detected: Nucleotide Deletion CanFam 3.1 chr21:42583623-42587925del (4303 bp deletion)

Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive

Research Citation(s): Gill, JL. et al. Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene. (2011) Neurobiology of Disease 43;184–189.

Associated Breed(s): Irish Wolfhound,  Mixed Breed,