Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice.
Document Type
Article
Publication Date
2005
Keywords
Animals, Carbonic-Anhydrases, Chromosome-Mapping, Genes-Recessive, Immunohistochemistry, Lameness-Animal, Mice-Neurologic-Mutants, Molecular-Sequence-Data, Mutation, Nerve-Tissue-Proteins, RNA-Messenger
First Page
1239
Last Page
1246
JAX Source
Genetics 2005 Nov; 171(3):1239-46.
Abstract
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.
Recommended Citation
Jiao Y,
Yan J,
Zhao Y,
Donahue LR,
Beamer WG,
Li X,
Roe BA,
Ledoux MS,
Gu W.
Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice. Genetics 2005 Nov; 171(3):1239-46.