Mice heterozygous for this semi-dominant spontaneous mutation of the calcium channel, voltage-dependent, P/Q type, alpha 1A subunit gene have a shaky gait, but do not exhibit dyskinesia or absence seizures. The Tottering-5J mutation causes a shift in voltage activation and inactivation to lower voltages. This strain may be useful for studies of epilepsy and voltage-dependent calcium channels.Read More +
Mice heterozygous for the semi-dominant Tottering 5 Jackson mutation exhibit a shaky gait with hind limbs splayed laterally from the body in contrast to the other tottering mutants . Also, unlike tottering mice, Tg-5J heterozygotes do not exhibit dyskinesia or absence seizures. Axonal swelling is observed in Purkinje cells from homozygotes as well as a decrease in branching. The Tg-5J mutation causes a shift in voltage activation and inactivation to lower voltages. This strain may be useful for studies of epilepsy and voltage-dependent calcium channels.
The C57BL/10J background appears to be embryonic lethal as no homozygotes are produced in heterozygote x heterozygote matings. On a mixed BALB/cByJ and C57BL/10J background some homozygotes are produced, but die before 6 weeks of age.
This spontaneous mutation arose in strain B10.M-H2f/nMob Fmn1ld-2J/J (Stock No. 002225) at The Jackson Laboratory in 1995. It was backcrossed a minimum of five generations to C57BL/10J in the laboratory of Dr. Wayne Frankel and Dr. Verity Letts and donated to the Repository in 2008.
|Allele Name||tottering 5 Jackson|
|Gene Symbol and Name||Cacna1a, calcium channel, voltage-dependent, P/Q type, alpha 1A subunit|
|Strain of Origin||B10.M-H2f/nMob Fmn1ld-2J/J|
|Molecular Note||A G to A substitution at coding cDNA nucleotide 3899 (c.3899G>A) results in a change of arginine codon 1300 to glutamine (p.R1300Q).|
When maintaining a live colony, these mice are bred as heterozygotes. On the C57BL/10J background, homozygous mice die by before birth.
When using the B10.Cg-Cacna1aTg-5J/LetJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #008623 in your Materials and Methods section.