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

Tim Rasmus Kiehl, Alex Nechiporuk, Karla P. Figueroa, Mark T. Keating, Duong P. Huynh, Stefan M. Pulst

Research output: Contribution to journalArticlepeer-review

106 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)17-24
Number of pages8
JournalBiochemical and Biophysical Research Communications
Issue number1
StatePublished - Jan 6 2006
Externally publishedYes


  • A2BP1
  • Ataxin-2
  • Fox-1
  • Knockout
  • Obesity
  • Rotarod
  • SCA2
  • Segregation distortion
  • Spinocerebellar ataxia type 2

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology


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