Allele Symbol: Adam17m1Btlr
Name: mutation 1, Bruce Beutler
Alteration at locus: Chemically Induced
Gene Symbol: Adam17
Name: a disintegrin and metallopeptidase domain 17
Alteration at locus: Chemically Induced
ES Cell Line: Not applicable
Additional mutations found on this strain:
|Allele||Source||Chr||Coord||Type||Predicted Effect||PPH Score|
|R0080:Adam17||UTSW||12||21329048||splice donor site||probably benign|
|R0082:Adam17||UTSW||12||21329048||splice donor site||probably benign|
|R0511:Adam17||UTSW||12||21340458||splice donor site||probably benign|
|R0745:Adam17||UTSW||12||21332221||splice acceptor site||probably benign|
|R1503:Adam17||UTSW||12||21332560||splice donor site|
|R1594:Adam17||UTSW||12||21340470||critical splice donor site||probably null|
|R2249:Adam17||UTSW||12||21346011||splice donor site|
|R2679:Adam17||UTSW||12||21355714||splice acceptor site|
|R3793:Adam17||UTSW||12||21346005||splice donor site|
Homozygous phenotype: 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.
Heterozygous phenotype: Not evaluated, phenotype is presumed to be normal.
Strain of Origin: C57BL/6J
Strain genetic background: C57BL/6J
Strain 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 an T to A transversion at position 1186 of the Adam17 gene, in exon 9 of 19 total exons using Genbank record NM_009615. 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.
Suggested Control Mice: Wild-type littermates
Donor: Bruce Beutler, Ph.D., The Scripps Research Institute
While maintaining a live colony, these mice are bred as heterozygote female x homozygote male. Females homozygous for the mutation do not breed.
Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.
Fee/unit (US $)
|Litter||Recovered litter1; additional fees for any special requests.|
1 The distribution fee covers the expense of resuscitating mice from the cryo-archive; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.
2 An aliquot is one straw or vial with sufficient sperm to recover at least one litter of mice, as per provided protocols, when performed at the MMRRC facility. The MMRRC makes no guarantee concerning the success of these procedures when performed outside the MMRRC facilities.
3 An aliquot contains a sufficient number of embryos (in one or more vials and based on the transfer success rate of the MMRRC facility) to transfer to at least two recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.
To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.