C57BLKS/J-Cacna2d2^du-2J/LetJ

Stock number: 008625
Research areas: Cell Biology Research, Neurobiology Research

Description

Mice homozygous for spontaneous mutation of the calcium channel, voltage-dependent, alpha 2/delta subunit 2 gene exhibit ataxia, paroxysomal dyskinesia and absence seizures. Ducky 2J mice may be useful for studies of epilepsy and voltage-dependent calcium channels.

Detailed description

Mice homozygous for ducky-2J mutation exhibit ataxia and paroxysomal dyskinesia, however, they lack the "ducky" gait found in mice homozygous for the ducky allele (du) . EEG recordings reveal infrequent bilateral spike wave discharges accompanied by behavioral arrest. Absence seizures are increased in comparison to ducky mice (personal communication). This strain may be useful for studies of epilepsy and voltage-dependent calcium channels.

Development

This spontaneous mutation arose on C57BLKS/J and was maintained by brother x sister matings in the laboratory of Dr. Wayne Frankel and Dr. Verity Letts at The Jackson Laboratory. It was donated to the Repository in 2008.

Allele

Symbol: Cacna2d2^du-2J
Name: ducky 2 Jackson
MGI accession ID: MGI:2149331
Generation method: Spontaneous
Synonyms: du^2J
Marker symbol: Cacna2d2
Marker name: calcium channel, voltage-dependent, alpha 2/delta subunit 2
Marker synonyms: a2d2; CACNA2D; CASVDD; nmf299
Chromosome: 9
Strain of origin: C57BLKS/J
Molecular note: A 2 bp deletion within exon 9 is predicted to cause a frameshift and premature truncation of the encoded protein. Northern blot analysis on mRNA derived from brain tissue of homozygous mice showed no difference in transcription levels compared to wild type, suggesting stability of the mutated transcript.