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Publication : Generation and characterization of Sca2 (ataxin-2) knockout mice.

First Author  Kiehl TR Year  2006
Journal  Biochem Biophys Res Commun Volume  339
Issue  1 Pages  17-24
PubMed ID  16293225 Mgi Jnum  J:103805
Mgi Id  MGI:3610752 Doi  10.1016/j.bbrc.2005.10.186
Citation  Kiehl TR, et al. (2006) Generation and characterization of Sca2 (ataxin-2) knockout mice. Biochem Biophys Res Commun 339(1):17-24
abstractText  Ataxin-2, the gene product of the Spinocerebellar Ataxia Type 2 (SCA2) gene, is a protein of unknown function with abundant expression in embryonic and adult tissues. Its interaction with A2BP1/Fox-1, a protein with an RNA recognition motif, suggests involvement of ataxin-2 in mRNA translation or transport. To study the effects of in vivo ataxin-2 function, we generated an ataxin-2 deficient mouse strain. Ataxin-2 deficient mice were viable. Genotypic analysis of litters from mating of heterozygous mice showed segregation distortion with a significant reduction in the birth of Sca-/- females. Detailed macroscopic and microscopic analysis of surviving nullizygous Sca2 knockout mice showed no major histological abnormalities. On a fat-enriched diet, ataxin-2 deficient animals had increased weight gain. Our results demonstrate that ataxin-2, although widely expressed, is not essential in development or during adult survival in the mouse, but leads to adult-onset obesity.
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