International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


POSTER 115 - AN ANALYSIS OF THE WASTED MOUSE - A POTENTIAL MODEL FOR MOTOR NEURONE DISEASE

Ms Helen Joy Newbery
University of Edinburgh
Medical Genetics Section
Molecular Medicine Centre
Western General Hospital
Edinburgh
EH4 2XU
UK

Co-Authors: 1)Wharton SB, 2)Peters J, 3)Abbott CM
Institutions: 1)Academic Unit of Pathology, University of Sheffield, Medical School, 2)MRC Mammalian Genetics Unit, Harwell, 3)Medical Genetics Section, Molecular Medicine Centre, Western General Hospital,

Mice homozygous for the recessive mutation wasted (wst) are normal until 21 days, whereupon they develop a progressive neuromuscular and immunological phenotype, and die at 28 days. They provide a possible model for motor neuron disease (MND). We have investigated the neuropathology of wasted mice, and have found neuronal vacuolation in the spinal cord which is not present in heterozygous littermate controls. Our immunohistochemical analysis has demonstrated that substantially more anterior horn neurons in wasted mice are positive for GFAP and phosphorylated neurofilaments than in controls. There were no differences between wasted and control mice in the expression of dephosphorylated neurofilaments, MAP-2, or ubiquitin.

The genetic defect responsible for wasted is a 15.8 kb deletion which removes the promoter and first exon of eukaryotic elongation factor 1A-2 (Eef1a2), abolishing its expression. This gene is highly homologous to elongation factor 1A-1 (Eef1a1). Although Eef1a1 is widely expressed, Eef1a2 is only expressed in terminally differentiated cells of the heart, skeletal muscle and central nervous system. In these cells, there is a developmental switch between the two elongation factor isoforms. We have raised and characterised an anti-peptide antibody and have shown this to be specific for eEF1A-2.


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