C57BL/6J-Egfr^Vel/J

Stock number: 006926
Product name: Velvet
Research areas: Dermatology Research, Developmental Biology Research, Sensorineural Research

Description

This ENU induced mutation causes lethality in homozygous embryos by day E13.5, and heterozygous mice exhibit eye defects and curly vibrissae.

Detailed description

Mice homozygous for this mutation have an embryonic lethal phenotype, failing to develop past embryonic days 13.5. Heterozygous mice are viable, fertile, do not display any behavioral abnormalities and are born with open eyelids and curly vibrissae. Adult heterozygotes often have small eyes and corneal opacity with excessive secretions at the eyelid edges. MEFs (mouse embryonic fibroblasts) exhibit reduced migratory ability, approximately 53% of wildtype controls. Histological analysis of homozygous E12.5 embryos reveals placental defects. This mutant mouse strain may be useful in studies of development and as a visible dominant marker for the Egfr allelic series.

Development

This strain was developed using ENU mutagenesis of male C57BL/6J mice. This mutation was identified in F1 offspring of the ENU-treated male founder. The ENU treatment induced an adenine-to-guanine transition, leading to an amino acid change from aspartic acid to glycine at position 833 of the protein (D833G). The D833G mutation is the same mutation identified in Egfr^Wa5. Mutant animals were backcrossed to C57BL/6J for at least 10 generations.

Allele

Symbol: Egfr^Vel
Name: velvet
MGI accession ID: MGI:3037902
Generation method: Chemically induced (ENU)
Attributes: Not Applicable
Marker symbol: Egfr
Marker name: epidermal growth factor receptor
Chromosome: 11
Strain of origin: C57BL/6J
Molecular note: An A to G transition in the coding region causes the replacement of aspartic acid by glycine at position 833 (D833G). The mutation causes an alteration in the cytoplasmic tyrosine kinase domain structure and falls within a DFG motif known to be important for ATP coordination.
General note: This allele contains the same point mutation as in Egfr^Wa5 in a different ENU screen and strain. Both alleles are considered antimorphs.