B6.C3Bir-Cacna1a^tg-4J/LetJ

Stock number: 008622
Research areas: Cell Biology Research, Neurobiology Research

Description

Mice homozygous for this spontaneous mutation of the calcium channel, voltage-dependent, P/Q type, alpha 1A subunit gene have an ataxic gait, paroxysomal dyskinesia and absence seizures. Tottering 4J mice may be useful for studies of epilepsy and voltage-dependent calcium channels.

Detailed description

Homozygotes for the tottering 4 Jackson allele exhibit a phenotype similar to that of mice homozygous for the tottering allele. Mice have an ataxic gait, with high stepping, waggling movements and paroxysomal dyskinesia. EEG recordings reveal 5-7 Hz spike wave discharges accompanied by behavioral arrest lasting up to 1.8 sec and ocurring an average of four times per hour. This seizure phenotype is less severe than in tottering mice. Unique among the tottering alleles, tg-4J causes altered activation and inactivation kinetics of the voltage-dependent calcium channel. This strain may be useful for studies of epilepsy and voltage-dependent calcium channels.

Development

This spontaneous mutation arose at The Jackson Laboratory in a colony of C3H/HeJBir in the laboratory of Dr. Edward Birkenmeier in 1996. It was backcrossed to C57BL/6J for a minimum of 10 generations in the laboratory of Dr. Wayne Frankel and Dr. Verity Letts. The strain was donated to the Repository in 2008.

Allele

Symbol: Cacna1a^tg-4J
Name: tottering 4 Jackson
MGI accession ID: MGI:2155892
Generation method: Spontaneous
Marker symbol: Cacna1a
Marker name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Chromosome: 8
Strain of origin: C3H/HeJBir
Molecular note: A T to C substitution at coding cDNA nucleotide 1886 (c.1886T>C) results in a change of valine codon 629 to alanine (p.V629A).