International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


POSTER 200 - ANALYSIS OF THE WASTED MOUSE MUTANT BY TRANSGENIC RESCUE

Miss Hsiao-Wei Loh
University of Edinburgh
Medical Genetics Section
Molecular Medicine Centre
Western General Hospital
Edinburgh
EH4 2XU
UK

Co-Authors: Abbott CM
Institutions: Medical Genetics Section, Molecular Medicine Centre, Western General Hospital

The spontaneous wasted (wst) mutation arises from a 15.8kb deletion at the distal end of mouse chromosome 2. Homozygous wst/wst mice display a combination of neuromuscular and immunological defects: weight loss, tremors, progressive paralysis, and atrophy of lymphoid organs. The symptoms culminate in death by 31 days. The expression of a temporal- and tissue-specific translation elongation factor, eEF1A-2, is abolished by the wst mutation. The loss of Eef1a2 expression coincides with the onset of wasted symptoms at 20 days post-natal. Genomic sequence of the region containing the mutation has been sequenced. We present a comparative analysis of the region surrounding the wasted deletion and its region of conserved synteny on human chromosome 20q13.3. We also report the progress made in our experiments to rescue wasted mice with a large construct carrying the critical region.


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