International Mammalian Genome Society

logo18th International Mouse Genome Conference

17-22 October 2004, Seattle, USA


POSTER 141 - HIGH RESOLUTION MAPPING OF THE TEETERING MOUSE EPILEPSY GENE AND INVESTIGATION OF CANDIDATE GENES

Moffatt S, White AH, Gardiner RM, Rees M

Department of Paediatrics & Child Health, Royal Free & University College Medical School, University College London, London, United Kingdom

The autosomal recessive teetering mutation arose spontaneously in the 1950’s on a C3H/HeJ background.  Homozygous teetering (tn/tn) mice were shown to exhibit progressive ataxia, growth retardation and muscle wasting following weaning with eventual death at 5-6 weeks.  More recently teetering mice were shown to display bilaterally synchronous spike-wave discharges on cortical electroencephalogram recordings (J. Noebels, pers. comm.) linking teetering with a group of mouse models with absence epilepsy.  The teetering gene was originally mapped to the distal end of mouse chromosome 11 (Lane, 1967).  We typed offspring from a (B6C3Fe-a/a-tn x CAST/Ei) F1 interspecific backcross for microsatellite markers on distal chromosome 11 and localised tn to a 1cM region between D11Mit104 and D11Mit69. This region was subsequently narrowed to a smaller region of approximately 0.5 cM (~1Mb) between the genes Nptx1 and Pde6G using novel microsatellite and RFLP markers.  Here we will present data further refining this region to a 420kb interval between two further novel markers  In addition we report data evaluating candidate genes within the region and further characterise teetering brain pathology using immunohistochemical staining of cerebellar purkinje and granule cells. 

Lane LM (1967) [tn]. Mouse News Letter 37:34

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