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Mapping cerebellar abiotrophy in Australian Kelpies


Shearman, JR and Cook, RW and McCowan, C and Fletcher, JL and Taylor, RM and Wilton, AN, Mapping cerebellar abiotrophy in Australian Kelpies, Animal Genetics, 42, (6) pp. 675-678. ISSN 0268-9146 (2011) [Refereed Article]

Copyright Statement

copyright 2011 The Authors, Animal Genetics  2011 Stichting International Foundation for Animal Genetics

DOI: doi:10.1111/j.1365-2052.2011.02199.x


An autosomal recessive form of cerebellar abiotrophy occurs in Australian Kelpie dogs. Clinical signs range from mild ataxia with intention tremor to severe ataxia with seizures. A whole-genome mapping analysis was performed using Affymetrix Canine SNP array v2 on 11 affected and 19 control dogs, but there was no significant association with disease. A homozygosity analysis identified a three megabase region likely to contain the disease mutation. The region spans 29.8-33 Mb on chromosome 3, for which all affected dogs were homozygous for a common haplotype. Microsatellite markers were developed in the candidate region for linkage analysis that resulted in a logarithm of odds score suggestive of linkage. The candidate region contains 29 genes, none of which are known to cause ataxia.

Item Details

Item Type:Refereed Article
Keywords:gene mapping, cerebellar abiotrophy, domesticated species
Research Division:Biomedical and Clinical Sciences
Research Group:Neurosciences
Research Field:Neurology and neuromuscular diseases
Objective Division:Animal Production and Animal Primary Products
Objective Group:Livestock raising
Objective Field:Livestock raising not elsewhere classified
UTAS Author:Fletcher, JL (Dr Jessica Fletcher)
ID Code:147209
Year Published:2011
Web of Science® Times Cited:6
Deposited By:Menzies Institute for Medical Research
Deposited On:2021-10-19
Last Modified:2021-12-08

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