Overview

Also Known As:Velvet

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

Donating Investigator

Bruce Beutler, University of Texas Southwestern Medical

Genetic overview

Genetic Background	Generation

Egfr^Vel

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU) (Not Applicable)	Egfr	epidermal growth factor receptor

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Research Applications

Sensorineural Research
Developmental Biology Research
Dermatology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

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.

Control Suggestions

Wild-type from the colony
000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Selected References

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):331-40PubMed: 15020428 MGI: J:88776

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Genetics

Egfr^Vel

Allele Symbol: Egfr^Vel

Allele Name	velvet
Allele Type	Chemically induced (ENU) (Not Applicable)
Allele Synonym(s)	Egfr^M1Btlr
Gene Symbol and Name	Egfr, epidermal growth factor receptor
Gene Synonym(s)
Strain of Origin	C57BL/6J
Chromosome	11
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.
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.
Mutations Made By	Bruce Beutler, University of Texas Southwestern Medical

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

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

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Egfr^Vel/Egfr^Vel
involves: C57BL/6J

embryo phenotype

abnormal trophoblast layer morphology
- at E12.5, the labyrinth trophoblast layer appears disorganized
- Normal - however, the organization and number of trophoblast giant cells remain relatively normal

placental labyrinth hypoplasia
- a number of dead or dying cells are also observed
- at E12.5, homozygous mutant placentas show a significant reduction in cell number relative to wild-type and heterozygous controls

mortality/aging

embryonic lethality during organogenesis, complete penetrance
- a significant reduction in embryonic viability is first noted at E11.5
- homozygous mutant embryos do not survive past E13.5, putatively due to a placenta defect

Genotype: Egfr^Vel/Egfr⁺
involves: C57BL/6J

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

growth/size/body region phenotype

weight loss
- significant weight loss is observed with addition of 2% dextran sodium sulfate (DSS) to water, suggesting susceptibility to induced colitis

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

curly vibrissae
- heterozygotes are born with curly vibrissae

plush coat
- coats have a velvet-like texture

waved hair
- the first coat is wavy

vision/eye phenotype

abnormal eyelid development
- migration of eyelid epithelial cells appears to be defective

abnormal eyelid morphology
- excessive secretions are always observed at the edges of adult heterozygous mutant eyelids, possibly due to infection, drying, or trauma

corneal opacity
- the eyes of adult heterozygotes exhibit corneal opacity

eyelids open at birth
- heterozygotes are born with eyelids open, whereas the eyelids of wild-type littermates remain closed until 12 days after birth

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

microphthalmia
- the eyes of adult heterozygotes are often small

References

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):331-40PubMed: 15020428 MGI: J:88776

Additional - Egfr^Vel related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Breeding Considerations

When maintaining a live colony, these mice are bred as heterozygotes. Homozygotes have an embryonic lethal phenotype.
- Additional Breeding and Husbandry Support
Citation
When using the Velvet mouse strain in a publication, please cite the originating article(s) and include JAX stock #006926 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

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

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Heterozygous or Wild-Type for Egfr<Vel>

Related Products and Services

Frozen Mouse Embryo	C57BL/6J-Egfr<Vel>/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-Egfr<Vel>/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-Egfr<Vel>/J Frozen Embryo	$3373.50
Frozen Mouse Embryo	C57BL/6J-Egfr<Vel>/J Frozen Embryo	$3373.50

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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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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Also Known As:Velvet

Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

EgfrVel

Allele Symbol: EgfrVel

Disease Terms

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

Genotype: EgfrVel/EgfrVelinvolves: C57BL/6J

embryo phenotype

mortality/aging

Genotype: EgfrVel/Egfr+involves: C57BL/6J

cellular phenotype

growth/size/body region phenotype

integument phenotype

vision/eye phenotype

References

Additional - EgfrVel related

Genotyping Protocols

Breeding Considerations

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Additional Use Restrictions Apply

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Egfr^Vel

Allele Symbol: Egfr^Vel

Genotype: Egfr^Vel/Egfr^Vel
involves: C57BL/6J

Genotype: Egfr^Vel/Egfr⁺
involves: C57BL/6J

Additional - Egfr^Vel related