title: Generation and characterization of Sca2 (ataxin-2) knockout mice.
abstract: 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.
authors.affiliation: Rose Moss Laboratory for Parkinson and Neurodegenerative Diseases, Burns and Allen Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
authors.forename: Tim-Rasmus
authors.initials: TR
authors.lastname: Kiehl
authors.forename: Alex
authors.initials: A
authors.lastname: Nechiporuk
authors.forename: Karla P
authors.initials: KP
authors.lastname: Figueroa
authors.forename: Mark T
authors.initials: MT
authors.lastname: Keating
authors.forename: Duong P
authors.initials: DP
authors.lastname: Huynh
authors.forename: Stefan-M
authors.initials: SM
authors.lastname: Pulst
mesh_terms: D000818:Animals; D000831:Animals, Newborn; D000067528:Ataxins; D005260:Female; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D009043:Motor Activity; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000502:physiology; D009765:Obesity / Q000235:genetics / Q000503:physiopathology; D009928:Organ Specificity
chemical_list: D000067528:Ataxins; D009419:Nerve Tissue Proteins