Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Chemically Induced Mutation; Coisogenic; Mutant Strain; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N10F6pN1 Generation Definitions   Donating Investigator Bruce Beutler,   University of Texas Southwestern Medical

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). Mutant animals were backcrossed to C57BL/6J for at least 10 generations.

Control Information

	Control
	Wild-type from the colony
	000664 C57BL/6J
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Egfr

010575	B6;SJL-Tg(tetO-Egfr*)2-9Jek/J
000553	B6EiC3Sn a/A-Egfrwa2 Wnt3avt/J
002857	STOCK Egfrtm1Mag/J
000317	STOCK a/a Egfrwa2/J

View Strains carrying other alleles of Egfr     (4 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Lung Cancer   (EGFR)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Egfr^Vel/Egfr⁺

        involves: C57BL/6J

• vision/eye phenotype
• abnormal eyelid morphology
  • excessive secretions are always observed at the edges of adult heterozygous mutant eyelids, possibly due to infection, drying, or trauma   (MGI Ref ID J:88776)
• • eyelids open at birth
    • heterozygotes are born with eyelids open, whereas the eyelids of wild-type littermates remain closed until 12 days after birth   (MGI Ref ID J:88776)
  • failure of eyelid fusion
    • at E16.5, the upper and lower eyelids of wild-type embryos are fused in the midline, whereas those of heterozygous mutant embryos remain far apart due to defective migration of eyelid epithelial cells   (MGI Ref ID J:88776)
• corneal opacity
  • the eyes of adult heterozygotes exhibit corneal opacity   (MGI Ref ID J:88776)
• microphthalmia
  • the eyes of adult heterozygotes are often small   (MGI Ref ID J:88776)
• cellular phenotype
• decreased fibroblast cell migration
  • in vitro, mouse embryonic fibroblasts (MEFs) isolated from heterozygous embryos show ~47% reduction in their migratory ability relative to wild-type MEFs   (MGI Ref ID J:88776)
• growth/size phenotype
• weight loss
  • significant weight loss is observed with addition of 2% dextran sodium sulfate (DSS) to water, suggesting susceptibility to induced colitis   (MGI Ref ID J:166602)
• integument phenotype
• abnormal hair follicle orientation
  • after the first coat, pelage hair loses its waviness and appears disoriented, with individual shafts projecting in different directions   (MGI Ref ID J:88776)
• curly vibrissae
  • heterozygotes are born with curly vibrissae   (MGI Ref ID J:88776)
• plush coat
  • coats have a velvet-like texture   (MGI Ref ID J:88776)
• waved hair
  • the first coat is wavy   (MGI Ref ID J:88776)

Egfr^Vel/Egfr^Vel

        involves: C57BL/6J

• mortality/aging
• complete embryonic lethality during organogenesis
  • homozygous mutant embryos do not survive past E13.5, putatively due to a placenta defect   (MGI Ref ID J:88776)
  • a significant reduction in embryonic viability is first noted at E11.5   (MGI Ref ID J:88776)
• embryogenesis phenotype
• abnormal trophoblast layer morphology
  • at E12.5, the labyrinth trophoblast layer appears disorganized   (MGI Ref ID J:88776)
  • however, the organization and number of trophoblast giant cells remain relatively normal   (MGI Ref ID J:88776)
• placental labyrinth hypoplasia
  • at E12.5, homozygous mutant placentas show a significant reduction in cell number relative to wild-type and heterozygous controls   (MGI Ref ID J:88776)
  • a number of dead or dying cells are also observed   (MGI Ref ID J:88776)

View Research Applications

Research Applications

This mouse can be used to support research in many areas including:

Dermatology Research
Skin and Hair Texture Defects

Developmental Biology Research
Embryonic Lethality (Homozygous)
Eye Defects
Skin and Hair Texture Defects

Sensorineural Research
Eye Defects

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		EgfrVel
Allele Name		velvet
Allele Type		Chemically induced (ENU)
Mutation Made By		Bruce Beutler,   University of Texas Southwestern Medical
Strain of Origin		C57BL/6J
Gene Symbol and Name		Egfr, epidermal growth factor receptor
Chromosome		11
Gene Common Name(s)		9030024J15Rik; AI552599; ERBB; ERBB1; ErbB-1; Erbb; Errb1; Errp; HER1; PIG61; RIKEN cDNA 9030024J15 gene; Wa5; avian erythroblastic leukemia viral (v-erb-b) oncogene homolog; avian erythroblastosis oncogene B; expressed sequence AI552599; mENA; wa-2; wa2; waved 2; waved 5;
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 importantfor ATP coordination. [MGI Ref ID J:88776]

Genotyping

Genotyping Information

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Du X; Tabeta K; Hoebe K; Liu H; Mann N; Mudd S; Crozat K; Sovath S; Gong X; Beutler B. 2004. Velvet, a dominant Egfr mutation that causes wavy hair and defective eyelid development in mice. Genetics 166(1):331-40. [PubMed: 15020428]  [MGI Ref ID J:88776]

Additional References

Egfr^Vel related

Andric N; Thomas M; Ascoli M. 2010. Transactivation of the epidermal growth factor receptor is involved in the lutropin receptor-mediated down-regulation of ovarian aromatase expression in vivo. Mol Endocrinol 24(3):552-60. [PubMed: 20093417]  [MGI Ref ID J:157693]

Brandl K; Sun L; Neppl C; Siggs OM; Le Gall SM; Tomisato W; Li X; Du X; Maennel DN; Blobel CP; Beutler B. 2010. MyD88 signaling in nonhematopoietic cells protects mice against induced colitis by regulating specific EGF receptor ligands. Proc Natl Acad Sci U S A 107(46):19967-72. [PubMed: 21041656]  [MGI Ref ID J:166602]

Mustafi R; Dougherty U; Shah H; Dehghan H; Gliksberg A; Wu J; Zhu H; Joseph L; Hart J; Dive C; Fichera A; Threadgill D; Bissonnette M. 2012. Both stromal cell and colonocyte epidermal growth factor receptors control HCT116 colon cancer cell growth in tumor xenografts. Carcinogenesis 33(10):1930-9. [PubMed: 22791816]  [MGI Ref ID J:192954]

Health & husbandry

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Colony Maintenance

Breeding & Husbandry	When maintaining a live colony, these mice are bred as heterozygotes. Homozygotes have an embryonic lethal phenotype.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

General Supply Notes

• Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Wild-type from the colony
	000664 C57BL/6J
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX^® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX^® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX^® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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