Strain Name:

C57BL/6J-Adam17m1Btlr/Mmjax

Availability:

Cryopreserved - Ready for recovery     Available at the JAX MMRRC

Please refer to the Mutant Mouse Regional Resource Center (MMRRC) for information about C57BL/6J-Adam17m1Btlr/Mmjax MMRRC Stock Number 034295.
Mice homozygous for the ENU-induced Adam17 (waved) 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.

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.
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Specieslaboratory mouse
GenerationF?+F2pN1
Generation Definitions
 
Donating Investigator Bruce Beutler,   University of Texas Southwestern Medical

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.

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 Information

  Control
   000664 C57BL/6J
 
  Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Adam17
009597   STOCK Adam17tm1.2Bbl/J
View Strains carrying other alleles of Adam17     (1 strain)

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.
Inflammatory Skin and Bowel Disease, Neonatal; NISBD   (ADAM17)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Adam17m1Btlr/Adam17m1Btlr

        C57BL/6J-Adam17m1Btlr
  • mortality/aging
  • decreased survivor rate
    • survival rate of homozygotes (16.07%) is slightly lower than the expected Mendelian ratio (25%)   (MGI Ref ID J:166602)
  • 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   (MGI Ref ID J:166602)
    • PMA-stimulated embryonic fibroblasts secrete less TNF than heterozygous controls   (MGI Ref ID J:166602)
  • increased susceptibility to induced colitis   (MGI Ref ID J:166602)
  • homeostasis/metabolism phenotype
  • decreased circulating tumor necrosis factor level
    • LPS-stimulated peritoneal macrophages exhibit increased surface expression of TNF, but decreased quantities of soluble TNF   (MGI Ref ID J:166602)
    • PMA-stimulated embryonic fibroblasts secrete less TNF than heterozygous controls   (MGI Ref ID J:166602)
  • decreased transforming growth factor level
    • PMA-stimulated embryonic fibroblasts secrete less TGFalpha than controls   (MGI Ref ID J:166602)
  • growth/size/body phenotype
  • weight loss
    • significant weight loss is observed with addition of 1% dextran sodium sulfate (DSS) to water   (MGI Ref ID J:166602)
  • digestive/alimentary phenotype
  • increased susceptibility to induced colitis   (MGI Ref ID J:166602)
  • integument phenotype
  • waved hair
View Research Applications

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

Dermatology Research
Skin and Hair Texture Defects

Immunology, Inflammation and Autoimmunity Research
Inflammation
      Inflammatory bowel disease

Internal/Organ Research
Gastrointestinal Defects
      colitis

Sensorineural Research
Eye Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Adam17m1Btlr
Allele Name mutation 1, Bruce Beutler
Allele Type Chemically induced (ENU)
Common Name(s) wavedX;
Mutation Made By Bruce Beutler,   University of Texas Southwestern Medical
Strain of OriginC57BL/6J
Gene Symbol and Name Adam17, a disintegrin and metallopeptidase domain 17
Chromosome 12
Gene Common Name(s) ADAM18; CD156B; CSVP; NISBD; TACE; Tace; tumor necrosis factor-alpha converting enzyme;
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). [MGI Ref ID J:166602]

Genotyping

Genotyping Information

Genotyping Protocols

Adam17m1Btlr, Pyrosequencing


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

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]

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 & HusbandryWhile maintaining a live colony, these mice are bred as heterozygote female x homozygote male. Females homozygous for the mutation do not breed.

Pricing and Purchasing

Supply Notes


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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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