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 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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