International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


POSTER 9 - VELVET, A DOMINANT EGFR MUTATION THAT CAUSES WAVY HAIR AND DEFECTIVE EYELID DEVELOPMENT IN MICE

Du X
The Scripps Research Institute

Co-Authors: 1) Hoebe K, 1) Tabeta K, 2) Liu H, 1) Mann N, 1) Mudd S, 1) Crozat K, 1) Sovath S, 2) Gong X, 1) Beutler B
Institutions: 1) The Scripps Research Institute, 2) University of California, Berkeley

In the course of a large-scale program of ENU mutagenesis, we isolated a dominant mutation, called Velvet. The mutation was found to be uniformly lethal to homozygotes, which do not survive E13.5. Mice heterozygous for the Velvet mutation are born with eyelids open, and demonstrate a wavy coat and curly vibrissae. The mutation was mapped to the proximal end of chromosome 11 by genome-wide linkage analysis. On 249 meioses, the locus was confined to a 2.7Mb region, which included the epidermal growth factor receptor gene (Egfr). An A→G transition was identified in the Egfr coding region of Velvet mice, causing the amino acid substitution D831G. This substitution alters an essential triad of amino acids (DFG?GFG) which is normally required for coordination of the ATP substrate. As such, kinase activity is at least mostly abolished, but quaternary structure of the receptor is presumably maintained, accounting for the dominant effect. Velvet is the first known dominant representative of the Egfr allelic series that is fully viable: a fact that makes it particularly useful for developmental studies.


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