International Mammalian Genome Society

logo18th International Mouse Genome Conference

17-22 October 2004, Seattle, USA


POSTER 144- FITFUL – A NEW MOUSE MODEL OF IDIOPATHIC EPILEPSY AND ATAXIA

Roberts MC, Letts VA, Beyer B, Frankel WN

The Jackson Laboratory, Bar Harbor, United States

The fitful mouse mutation arose spontaneously on the C57BL/6J mouse strain.  Affected mice begin to have recurrent, non-lethal handling induced seizures (with limbic and generalized components) at two to three months of age, and this phenotype is dominant with 50% penetrance.  In order to understand the inheritance and to map the disease, the mice were crossed with FVB/NJ and CAST/EiJ strains. Although on the inbred C57BL/6J strain, the phenotype is homozygous lethal, either in the embryonic or perinatal period, in the mapping crosses homozygotes survive for about three weeks, with ataxic symptoms starting at over two weeks.  These symptoms include ataxic walk, wild runs and seizures.  The homozygous pups are also smaller than the unaffected littermates.  The epilepsy and ataxia were mapped to chromosome 2 in both crosses.  The fitful gene is located in an interval on chromosome 2 flanked by markers D2Mit120 (27.98 Mb) and D2Mit83 (29.27 Mb) that contains 19 genes and transcripts.  None of the genes in the interval appear to be ion channels or other genes that are already associated with seizures and ataxia, suggesting that fitful represents a novel form of idiopathic epilepsy and ataxia in the mouse.  

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