Strain Name    : C57BL/6J-Tmprss6msk/Mmucd

Stock Number : 016987-UCD

Other Names   : Mask, C57BL/6-Tmprss6msk/Mmcd

Gene Information

(provided by MGI)
Allele Symbol: Tmprss6msk
Name: mask
Chromosome: 15
Alteration at locus: Chemically Induced
Gene Symbol: Tmprss6
Name: transmembrane serine protease 6
Chromosome: 15
Alteration at locus: Chemically Induced
Genetic Alterations:
The Mask phenotype is due to an ENU-induced A to G transition in the splice acceptor site of exon 15 in the transmembrane serine protease 6 (Tmprss6) transcript. The resulting polypeptide lacks the proteolytic domain.

Genotype Determination:

ES Cell Line: Not applicable

Additional mutations found on this strain:

AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Tmprss6 APN 15 78442434 missense probably damaging 1.00
IGL02474:Tmprss6 APN 15 78442336 missense probably damaging 0.98
masquerade UTSW 15 78468000 nonsense
zorro UTSW 15 78464552 nonsense
R0285:Tmprss6 UTSW 15 78452868 missense possibly damaging 0.81
R1857:Tmprss6 UTSW 15 78452552 missense probably damaging 1.00
R2432:Tmprss6 UTSW 15 78465104 splice donor site
R4192:Tmprss6 UTSW 15 78446657 unclassified probably null
R4226:Tmprss6 UTSW 15 78446699 missense not run
R4227:Tmprss6 UTSW 15 78446699 missense not run
R4334:Tmprss6 UTSW 15 78459427 unclassified probably null
R4344:Tmprss6 UTSW 15 78459427 unclassified probably null
X0025:Tmprss6 UTSW 15 78455095 missense probably benign 0.17

Phenotype

Homozygous phenotype: Mutants exhibit hair loss on the torso, but not the head and microlytic anemia, as well as diminished iron in bone marrow and spleen. An increase in hepcidin is also noted.

Heterozygous phenotype: Not applicable

Mammalian Phenotype Terms:
Allelic Composition: Tmprss6msk/Tmprss6msk (Genetic Background: C57BL/6J-Tmprss6msk )

Strain of Origin: C57BL/6

Strain genetic background: C57BL/6

Strain Development: G0 C57BL/6 males are treated with ENU and bred with C57BL/6 females. G1 males are bred with C57BL/6 females, and females from the progeny are backcrossed with G1 males. Mask arose from the G3 generation.

Suggested Control Mice:

  • Wildtype littermates

  • Models for Human Disease
  • Iron Metabolism

Donor: Bruce Beutler, M.D., The Scripps Research Institute

Primary Reference:

  • Du X; She E; Gelbart T; Truksa J; Lee P; Xia Y; Khovananth K; Mudd S; Mann N; Moresco EM; Beutler E; Beutler B, The serine protease TMPRSS6 is required to sense iron deficiency., Science 2008 May 23;320(5879):1088-92 (Medline PMID: 18451267)
  • For additional information see: Mutagenetix, a catalog of mutations identified in the Beutler Laboratory at The Scripps Research Institute.

Colony and Husbandry Information

Provide supplemental iron.

Colony Surveillance Program and Current Health Reports

Mice recovered from a cryo-archive will have health surveillance performed on recipient females. Health reports will be provided prior to shipment. If you require additional health status information, please email mmrrc@ucdavis.edu.

Order Request Information

Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.

Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.The donor or their institution limits the distribution to non-profit institutions only.
Additional charges may apply for any special requests. Shipping costs are in addition to the basic distribution/resuscitation fees. Information on shipping costs and any additional charges will be provided by the supplying MMRRC facility.
Click button to Request this one strain. (Use the MMRRC Catalog Search to request more than one strain.)
MMRRC Item # Description
Distribution
Fee/unit (US $)
Units Notes
016987-UCD-RESUSLitter recovered from cryo-archive
$2,022.00
Non-Profit
Litter Recovered litter1; additional fees for any special requests.
016987-UCD-SPERMCryo-preserved spermatozoa
$437.00
Non-Profit
Aliquot Approximate quantity.2

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 above). 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.



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.