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doi:10.1534/genetics.105.044487
A more recent version of this article appeared on November 1, 2005.
REGULAR RESEARCH PAPERS |
Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice
Yan Jiao 1, Jian Yan 2, Yu Zhao 1, Leah Rae Donahue 3, Wesley G. Beamer 3, Xinmin Li 4, Bruce Roe 5, Mark Ledoux 1 and Weikuan Gu 1*
1 University of Tennessee Health Science Center
2 University of Memphis
3 The Jackson Laboratory
4 University of Chicago
5 University of Oklahoma
* To whom correspondence should be addressed. E-mail: wgu{at}utmem.edu.
Submitted on April 14, 2005
Revised on May 23, 2005
Accepted on 29 July 2005
The waddles (wdl) mouse is a unique animal model that exhibits ataxia and appendicular dystonia without pathological abnormalities of either the central or 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 the wdl locus on mouse Chr 4. Although regarded as a member of the carbonic anhydrase gene family, the encoded protein (CAR8) has no reported enzymatic activity. In +/+ mice, CAR8 is abundantly expressed in cerebellar Purkinje cells as well as several other cell groups. Compatible with nonsense-mediated decay of mutant transcripts, CAR8 is virtually absent in wdl mice. These data indicate that the wdl mouse is a Car8 null mutant and that CAR8 plays a central role in motor control.
Key Words: Ataxia, Carbonic anhydrase-related protein VIII gene, High-Throughput Screening, Waddles, mutation
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