Decreased gene expression of calretinin and ryanodine receptor type 1 in tottering mice. Academic Article uri icon


  • Tottering mice are a spontaneously occurring animal model of human absence epilepsy. They carry a mutation in the P/Q-type calcium channel alpha1A subunit gene which is highly expressed by cerebellar Purkinje cells. In this study, we investigated the role of calretinin and ryanodine receptor type 1 (RyR1) gene expression in the cerebellum of tottering mice. Cerebellar tissue specimens from four experimental groups were processed for in situ hybridization histochemistry (ISHH): (1) wild-type (+/+); (2) heterozygous (tg/+) and two homozygous groups; either (3) without occurrence of an episode of paroxysmal dyskinesia (tg/tg-N); or (4) after an episode of paroxysmal dyskinesia (tg/tg-P) that lasted about 45 min on average. Quantitative analysis showed a statistically significant decrease (p = 0.0001, ANOVA) of calretinin gene expression at the level of the simple lobule of the cerebellum in both homozygous groups compared to the wild-type and heterozygous groups. RyR1 was decreased in the flocculus of the cerebellum in both the tg/tg-N and tg/tg-P groups compared to wild type (p = 0.0174, ANOVA). These results suggest that calretinin gene expression, as well as other genes involved in regulation of calcium homeostasis, such as RyR1, may play a role in the biochemical functional alterations present in tottering mice.

published proceedings

  • Brain Res Bull

author list (cited authors)

  • Cicale, M., Ambesi-Impiombato, A., Cimini, V., Fiore, G., Muscettola, G., Abbott, L. C., & de Bartolomeis, A.

citation count

  • 21

complete list of authors

  • Cicale, M||Ambesi-Impiombato, A||Cimini, V||Fiore, G||Muscettola, G||Abbott, LC||de Bartolomeis, A

publication date

  • October 2002