Strain Detail Sheet

Strain Name    :

C57BL/6J-Tmprss6msk/Mmucd

Stock Number :

016987-UCD

Other Names   :

Mask, C57BL/6-Tmprss6msk/Mmcd

Gene Information

Gene Details [Including genotyping protocols]

(provided by MGI)
Allele Symbol: Tmprss6msk
Name: mask
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

Strain Description [Including phenotype, strain background, strain development and suggested control mice]

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:(provided by MGI)      Extend all MPTs
      assigned by genotype
Tmprss6msk/Tmprss6msk
        C57BL/6J-Tmprss6<msk>
  • growth/size phenotype
    • decreased body size (MGI Ref ID J:134446)
  • reproductive system phenotype
    • female infertility (MGI Ref ID J:134446)
      • homozygous mutant females are infertile unless supplemental iron is administered intraperitoneally or in their diet (2% carbonyl iron)
  • hematopoietic system phenotype
    • decreased hemoglobin content (MGI Ref ID J:134446)
    • decreased mean corpuscular volume (MGI Ref ID J:134446)
    • decreased spleen iron level (MGI Ref ID J:134446)
      • mask mutants consuming a standard laboratory diet have low tissue iron stores; far fewer spleen cells of mutant than of wild-type mice stain with Prussion blue
    • microcytic anemia (MGI Ref ID J:134446)
      • hematologic analysis of homozygous mutant mice reveals decreased mean red blood cell volume and decreased hemoglobin, diagnostic of microcytic anemia
  • homeostasis/metabolism phenotype
    • abnormal iron homeostasis (MGI Ref ID J:134446)
      • despite the anemia of iron-deprived homozygous mutants, their liver levels of mRNA encoding hepcidin, a suppressor of intestinal iron absorption, increase to approximately 8-fold the levels in iron-deprived but non-anemic controls, in whom hepcidin transcription is repressed
      • decreased circulating iron level (MGI Ref ID J:134446)
        • plasma iron levels of homozygous mutant mice are approximately 3-fold lower thant those of control mice
      • decreased spleen iron level (MGI Ref ID J:134446)
        • mask mutants consuming a standard laboratory diet have low tissue iron stores; far fewer spleen cells of mutant than of wild-type mice stain with Prussion blue
  • immune system phenotype
    • decreased spleen iron level (MGI Ref ID J:134446)
      • mask mutants consuming a standard laboratory diet have low tissue iron stores; far fewer spleen cells of mutant than of wild-type mice stain with Prussion blue
  • digestive/alimentary phenotype
    • abnormal intestinal mineral absorption (MGI Ref ID J:134446)
      • on a standard diet, intestinal iron absorption by mask mutants is slightly greater than that of non-anemic controls, as measured by 59Fe retention after intragastric administration
      • after 4 weeks on an iron-deficient diet, homozygous mutants exhibit only 3.5-fold greater 59Fe absorption efficiency than on a standard diet, compared to a 6-fold increase in absorption efficiency in iron-deprived but non-anemic controls
      • despite the anemia of iron-deprived homozygous mutants, their liver levels of mRNA encoding hepcidin, a suppressor of intestinal iron absorption, increase to approximately 8-fold the levels in iron-deprived but non-anemic controls, in whom hepcidin transcription is repressed
  • integument phenotype
    • alopecia (MGI Ref ID J:134446)
      • mice homozygous for this mutation develop a normal hair coat by postnatal day 10 (P10), but from P13 they gradually lose hair from the trunk, and most are nude or have very sparse body hair by P28; facial hair is unaffected
      • feeding or intraperitoneal administration of supplemental iron reverses the hair loss phenotype
    • progressive hair loss (MGI Ref ID J:134446)
      • mice homozygous for this mutation develop a normal hair coat by postnatal day 10 (P10), but from P13 they gradually lose hair from the trunk, and most are nude or have very sparse body hair by P28; facial hair is unaffected
      • feeding or intraperitoneal administration of supplemental iron reverses the hair loss phenotype

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

Research Applications

  • Models for Human Disease
  • Iron Metabolism

Strain Origin

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

Special Considerations

Provide supplemental iron.

Health Status Report

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

Availability Level

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

Conditions of Distribution [Including applicable technology transfer agreements]

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.

Fees

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
016987-UCD-EMBRYOCryo-preserved embryos
$1,038.00
Non-Profit
Aliquot Approximate quantity3: 20-40 embryos / aliquot

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.



The MMRRC is a collaborative effort, funded by grants from DPCPSI of the NIH.

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Generated: 04/23/2014