International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


POSTER 184 - POSITIONAL CLONING OF THE TEETERING GENE

Dr. Alicia White
University College London
Dept. of Paediatrics
Royal Free and University College Medical School
The Rayne Institute
5 University Street
London
WC1E 6JJ
UK

Co-Authors: Gardiner RM, Rees M
Institutions: University College London, Dept of Paediatrics, Royal Free & University College Medical School

The teetering mouse is characterised by ataxia and a spike and wave pattern on EEG that is similar to that seen in other mouse models of absence epilepsy such as ducky.  The teetering gene (tn) has been mapped to the distal end of mouse chromosome 11, in a region homologous to human 17q25.3.  An interspecific intercross is being carried out to refine the location of tn and a positional candidate approach will be used to identify the gene containing the causative mutation.

Thusfar over 250 affected (tn/tn) F2 teetering offspring from the (B6C3Fe-a/a-tn x CAST/Ei) F1 intercross have been typed for a panel of 7 markers spanning the most telomeric 10cM of chromosome 11.  Results of this screen have narrowed the tn critical region to 1cM between D11Mit104 (79cM) and D11Mit69 (80cM).  In order to more finely map tn, novel SSLP and SSCP polymorphisms in the region are being sought using inter-B1 repeat PCR to amplify from a number of BAC and YAC clones known to lie within the candidate region.

Calcium channel subunit genes are obvious candidates for tn as several other mouse models with absence epilepsy and ataxia have been found to have mutations in such genes. Several calcium channel subunit genes are known to lie on human 17q25.3, including the brain expressed CACNG4 and CACNA1G, but analysis of this region using the Human Genome Project Working Draft (http://genome.cse.ucsc.edu/) suggests that both of these genes are likely to lie outside of the tn critical region.


Abstracts * Officers * Bylaws * Application Form * Meeting Calendar * Contact Information * Home * Resources * News and Views * Membership

Base url http://imgs.org
Last modified: Saturday, November 3, 2012