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

http://www.ncbi.nlm.nih.gov/pubmed/16293225

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.

Pubmed ID: 16293225 RIS Download

Mesh terms: Animals | Animals, Newborn | Female | Male | Mice | Mice, Knockout | Motor Activity | Nerve Tissue Proteins | Obesity | Organ Specificity

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Associated grants

  • Agency: NINDS NIH HHS, Id: R01-NS33123

Mouse Genome Informatics (Data, Gene Annotation)

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