Scripps VIVO scripps research logo

  • Index
  • Log in
  • Home
  • People
  • Organizations
  • Research
  • Events
Search form
As of April 1st VIVO Scientific Profiles will no longer updated for faculty, and the link to VIVO will be removed from the library website. Faculty profile pages will continue to be updated via Interfolio. VIVO will continue being used behind the scenes to update graduate student profiles. Please contact helplib@scripps.edu if you have questions.
How to download citations from VIVO | Alternative profile options

Velvet, a dominant egfr mutation that causes wavy hair and defective eyelid development in mice

Academic Article
uri icon
  • Overview
  • Identity
  • Additional Document Info
  • View All
scroll to property group menus

Overview

authors

  • Du, X.
  • Tabeta, K.
  • Hoebe, K.
  • Liu, H. Q.
  • Mann, N.
  • Mudd, S.
  • Crozat, K.
  • Sovath, S.
  • Gong, Xiaohua
  • Beutler, Bruce

publication date

  • January 2004

journal

  • Genetics  Journal

abstract

  • 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 2.7-Mb region, which included the epidermal growth factor receptor gene (Egfr). An A --> G transition in the Egfr coding region of Velvet mice was identified, causing the amino acid substitution D833G. This substitution alters an essential triad of amino acids (DFG --> GFG) that 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.

subject areas

  • Animals
  • Base Sequence
  • Chromosome Mapping
  • DNA, Complementary
  • Eyelids
  • Female
  • Genes, Dominant
  • Genes, erbB-1
  • Hair
  • Heterozygote
  • Homozygote
  • Male
  • Mice
  • Mice, Inbred C3H
  • Mice, Inbred C57BL
  • Mice, Mutant Strains
  • Mutagenesis
  • Mutation
  • Phenotype
  • Pregnancy
  • Receptor, Epidermal Growth Factor
scroll to property group menus

Identity

International Standard Serial Number (ISSN)

  • 0016-6731

Digital Object Identifier (DOI)

  • 10.1534/genetics.166.1.331

PubMed ID

  • 15020428
scroll to property group menus

Additional Document Info

start page

  • 331

end page

  • 340

volume

  • 166

issue

  • 1

©2022 The Scripps Research Institute | Terms of Use | Powered by VIVO

  • About
  • Contact Us
  • Support