Inventors:
Wayne N. Frankel - Bar Harbor ME
Gregory A. Cox - Bar Harbor ME
Cathleen M. Lutz - Bar Harbor ME
Jeffrey L. Noebels - Houston TX
Assignee:
The Jackson Laboratory - Bar Harbor ME
Baylor College of Medicine - Houston TX
International Classification:
G01N 3353
Abstract:
Disclosed is the identification of a mutation which is responsible for ataxia and epilepsy in a murine model system. More specifically, a mutation has been identified within the Nhe1 gene (also referred to as the Slc9a1 gene) which results in both ataxia and epilepsy. The specific mutation identified is an A to T transition at nucleotide 1639 which creates a premature stop codon. The identification of this mutation enables methods for the detection of clinical disorders associated with a defect in a cation exchanger (e. g. , Nhe1).