Overview

Also Known As:wavedx

Mice homozygous for the ENU-induced Adam17 (wavedx) mutation are characterized by open eyelids and curly vibrissae at birth; adult animals display wavy coats, corneal opacities, are susceptible to dextran sulfate sodium (DSS)-induced colitis. This mutant mouse strain may be useful in studies of inflammatory bowel disease.

Donating Investigator

Bruce Beutler, University of Texas Southwestern Medical

Genetic overview

Genetic Background	Generation

Adam17^m1Btlr

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Adam17	a disintegrin and metallopeptidase domain 17

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Research Applications

Internal/Organ Research
Immunology, Inflammation and Autoimmunity Research
Dermatology Research
Sensorineural Research

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Details

Detailed Description

Mice homozygous for the mutation are viable and are characterized by open eyelids and curly vibrissae at birth; adult animals display wavy coats and corneal opacities. These animals are susceptible to dextran sulfate sodium (DSS)-induced colitis and exhibit severe weight loss as a result of DSS administration. The donating investigator indicates that homozygous males are fertile, however homozygous females do not breed. This mutant mouse strain may be useful in studies of inflammatory bowel disease.

For additional information, see The Scripps Research Institute Mutagenix website.

Heterozygotes: Not evaluated, phenotype is presumed to be normal.

Development

This missense point mutation was generated by ethylnitrosourea (ENU) mutagenesis in C57BL/6J males. Mutagenized males were outcrossed to C57BL/6J females. The mutation results in a T to A transversion at position 1186 of the
Adam17 gene, in exon 9 of 19 total exons. The mutation alters the corresponding amino acid from phenylalanine to isoleucine at codon 343. Upon arrival, mice were bred to C57BL/6J for at least 1 generation to establish the colony.

Control Suggestions

000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Selected References

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):19967-72PubMed: 21041656 MGI: J:166602

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Genetics

Adam17^m1Btlr

Allele Symbol: Adam17^m1Btlr

Allele Name	mutation 1, Bruce Beutler
Allele Type	Chemically induced (ENU)
Allele Synonym(s)	wavedX
Gene Symbol and Name	Adam17, a disintegrin and metallopeptidase domain 17
Gene Synonym(s)
Strain of Origin	C57BL/6J
Chromosome	12
Molecular Note	The wavedX mutation has been identified as a T to A transversion at nucleotide position 1186 of the gene, in the ninth of its 19 exons. It changes phenylalanine to isoleucine at amino acid position 343 of the protein (F343I).
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:

Internal/Organ Research
- Gastrointestinal Defects
  - colitis
Immunology, Inflammation and Autoimmunity Research
- Inflammation
  - Inflammatory bowel disease
Dermatology Research
- Skin and Hair Texture Defects
Sensorineural Research
- Eye Defects

Mammalian Phenotype Terms by Genotype

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

Genotype: Adam17^m1Btlr/Adam17^m1Btlr
C57BL/6J-Adam17

digestive/alimentary phenotype

increased susceptibility to induced colitis

mortality/aging

decreased survivor rate
- survival rate of homozygotes (16.07%) is slightly lower than the expected Mendelian ratio (25%)

growth/size/body region phenotype

weight loss
- significant weight loss is observed with addition of 1% dextran sodium sulfate (DSS) to water

homeostasis/metabolism phenotype

decreased circulating tumor necrosis factor level
- PMA-stimulated embryonic fibroblasts secrete less TNF than heterozygous controls
- LPS-stimulated peritoneal macrophages exhibit increased surface expression of TNF, but decreased quantities of soluble TNF

decreased transforming growth factor beta level
- PMA-stimulated embryonic fibroblasts secrete less TGFalpha than controls

immune system phenotype

decreased circulating tumor necrosis factor level
- LPS-stimulated peritoneal macrophages exhibit increased surface expression of TNF, but decreased quantities of soluble TNF
- PMA-stimulated embryonic fibroblasts secrete less TNF than heterozygous controls

increased susceptibility to induced colitis

integument phenotype

waved hair
- wavy coat

References

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):19967-72PubMed: 21041656 MGI: J:166602

Additional - Adam17^m1Btlr related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Pyrosequencing:Adam17
- Genotyping resources and troubleshooting
Breeding Considerations

While maintaining a live colony, these mice are bred as heterozygote female x homozygote male. Females homozygous for the mutation do not breed.
- Additional Breeding and Husbandry Support
Citation
When using the wavedx mouse strain in a publication, please cite the originating article(s) and include MMRRC stock #34295 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

The Jackson Laboratory's Genotype Promise

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.

Terms Of Use

General Terms and Conditions

See MMRRC for Additional Conditions of Distribution

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Also Known As:wavedx

Donating Investigator

Genetic overview

Research Applications

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Adam17m1Btlr

Allele Symbol: Adam17m1Btlr

Disease Terms

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

Genotype: Adam17m1Btlr/Adam17m1BtlrC57BL/6J-Adam17

digestive/alimentary phenotype

mortality/aging

growth/size/body region phenotype

homeostasis/metabolism phenotype

immune system phenotype

integument phenotype

References

Additional - Adam17m1Btlr related

Genotyping Protocols

Breeding Considerations

Citation

Animal Health Reports

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

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

Adam17^m1Btlr

Allele Symbol: Adam17^m1Btlr

Genotype: Adam17^m1Btlr/Adam17^m1Btlr
C57BL/6J-Adam17

Additional - Adam17^m1Btlr related