Article
Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice.
Genetics - 1 Nov 2005
Jiao Yan, Yan Jian, Zhao Yu, Donahue Leah Rae, Beamer Wesley G, Li Xinmin, Roe Bruce A, Ledoux Mark S, Gu Weikuan
Abstract excerpt
The waddles (wdl) mouse is a unique animal model that exhibits ataxia and appendicular dystonia without pathological abnormalities of either the central or the peripheral nervous systems. A 19-bp deletion in exon 8 of the carbonic anhydrase-related protein VIII gene (Car8) was detected by high-throughput temperature-gradient capillary electrophoresis heteroduplex analysis of PCR amplicons of genes and ESTs within...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
