Identification of congenital muscular dystonia 2 associated with an inherited GlyT2 defect in Belgian Blue cattle from the United Kingdom

Gill, J.L., James, V.M., Carta, E., Harris, D., Topf, M., Scholes, S.F.E., Hateley, G. and Harvey, R.J. (2011) Identification of congenital muscular dystonia 2 associated with an inherited GlyT2 defect in Belgian Blue cattle from the United Kingdom. Animal Genetics . 10.1111/j.1365-2052.2011.02255.x.

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DOI: 10.1111/j.1365-2052.2011.02255.x

Abstract

Two newborn Belgian Blue calves from a farm in the United Kingdom exhibited lateral recumbency, low head carriage and transient muscle spasms following tactile or auditory stimulation. DNA sequence analysis indicated that both calves were homozygous for the recessive congenital muscular dystonia type 2 (CMD2) mutation (c.809T>C, p.Leu270Pro) in SLC6A5, encoding the neuronal glycine transporter GlyT2. Further testing of animals from the index farm and a sample of Belgian Blue sires revealed an unexpectedly high frequency of CMD2 carriers. This implies that linked quantitative trait loci may be influencing the prevalence of CMD2 in the estimated 55 000 Belgian Blue cattle in the United Kingdom. We have therefore developed new inexpensive tests for the CMD2 allele that can be used to confirm diagnosis, identify carriers and guide future breeding strategy, thus avoiding animal distress/premature death and minimizing the future economic impact of this disorder.

Item Type:Article
Uncontrolled Keywords:Belgian Blue;CMD2;congenital muscular dystonia type 2;glycine transporter;GlyT2
Departments, units and centres:Department of Pharmacology > Department of Pharmacology
ID Code:2372
Journal or Publication Title:Animal Genetics
Deposited By:Library Staff
Deposited On:21 Oct 2011 09:32
Last Modified:04 May 2012 15:04

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