Originally published as Genetics Published Articles Ahead of Print on August 22, 2005.

Genetics, Vol. 171, 1239-1246, November 2005, Copyright © 2005
doi:10.1534/genetics.105.044487

Carbonic Anhydrase-Related Protein VIII Deficiency Is Associated With a Distinctive Lifelong Gait Disorder in Waddles Mice

Yan Jiao^*, Jian Yan, Yu Zhao, Leah Rae Donahue, Wesley G. Beamer, Xinmin Li^**, Bruce A. Roe, Mark S. LeDoux and Weikuan Gu^*,1

^* Departments of Orthopedic Surgery-Campbell Clinic and Pathology, University of Tennessee Health Science Center, Memphis, Tennessee 38163, Department of Biology, University of Memphis, Memphis, Tennessee 38163, Departments of Neurology and Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis, Tennessee 38163, The Jackson Laboratory, Bar Harbor, Maine 04609, ^** Functional Genomics Facility, University of Chicago, Chicago, Illinois 60637 and Department of Chemistry and Biochemistry, University of Oklahoma, Norman, Oklahoma 73019

¹ Corresponding author: University of Tennessee Health Science Center, A331 Coleman Bldg., 956 Court Ave., Memphis, TN 38163.
E-mail: wgu{at}utmem.edu

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 the wdl locus on mouse chromosome 4. Although regarded as a member of the carbonic anhydrase gene family, the encoded protein (CAR8) has no reported enzymatic activity. In normal mice, CAR8 is abundantly expressed in cerebellar Purkinje cells as well as in several other cell groups. Compatible with nonsense-mediated decay of mutant transcripts, CAR8 is virtually absent in mice homozygous for the wdl mutation. These data indicate that the wdl mouse is a Car8 null mutant and that CAR8 plays a central role in motor control.

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