Article
entla, a novel epileptic and ataxic Cacna2d2 mutant of the mouse.
The Journal of biological chemistry - 20 Feb 2004
Brill Julia, Klocke Rainer, Paul Dieter, Boison Detlev, Gouder Nicolette, Klugbauer Norbert, Hofmann Franz, Becker Cord-Michael, Becker Kristina
Abstract excerpt
entla (ent) is a novel recessive phenotype of mice. The underlying mutation was mapped to chromosome 9 (60.1 centimorgans) and identified as an allele of the Cacna2d2 gene encoding the alpha2delta-2 subunit of voltage-gated calcium channels. The Cacna2d2entla allele harbors a 38-kb duplication comprising the 117 nucleotides of exon 3. The predicted duplication of 39 amino acid residues near the subunit's N...
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