Strain Name:
C57BL/6-Tg(Ttr-Hfe*C294Y)1Nca/Mmjax
Stock Number:
034671-JAX
Citation ID:
RRID:MMRRC_034671-JAX

Gene Information

Hfe
Name: homeostatic iron regulator
Synonyms: MR2
Type: Gene
Species: Mus musculus (mouse)
Chromosome: 13
NCBI: 15216
HGNC: HGNC:4886
Homologene: 88330
Ttr
Name: transthyretin
Synonyms: prealbumin
Type: Gene
Species: Mus musculus (mouse)
Chromosome: 18
NCBI: 22139
VEGA: 18
Homologene: 317
Tg(Ttr-Hfe*C294Y)1Nca
Name: transgene insertion 1, Nancy C Andrews
Synonyms: HfeC294Y
Type: Transgene
Species: Mus musculus (mouse)
Chromosome: unknown
Alteration at locus: Transgenic
Genotype Determination
Phenotype
Homozygous: Not evaluated

Hemizygous: These HfeC294Y mutant mice over-express an altered form of the hemochromatosis (Hfe) gene (amino acid substitution C294Y) under the control of the hepatocyte-specific transthyretin promoter (Ttr). This mutation is the mouse equivalent of the human C282Y mutation associated with hereditary hemochromatosis. When combined with mice lacking endogenous Hfe (Hfe-/-), hemizygotes have slightly decreased parameters of iron overload as compared to Hfe-/- littermates. This mutant mouse strain may be useful in studies of hereditary hemochromatosis.
MeSH Terms
  • Animals
  • Anti-Bacterial Agents/metabolism
  • Antimicrobial Cationic Peptides/genetics
  • Antimicrobial Cationic Peptides/metabolism
  • Blotting, Western
  • Cells, Cultured
  • Embryo, Mammalian/cytology
  • Embryo, Mammalian/metabolism
  • Female
  • Fibroblasts/cytology
  • Fibroblasts/metabolism
  • Hemochromatosis
  • Hemochromatosis Protein
  • Hepcidins
  • Histocompatibility Antigens Class I/physiology
  • Humans
  • Immunoenzyme Techniques
  • Male
  • Membrane Proteins/metabolism
  • Membrane Proteins/physiology
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Mutation, Missense/genetics
  • Prealbumin/genetics
  • Promoter Regions, Genetic/genetics
  • RNA, Messenger/genetics
  • Reverse Transcriptase Polymerase Chain Reaction
Strain Development
The transgenic construct contains the mouse hemochromatosis (Hfe) cDNA altered to include the mutation C294Y representing a cysteine to tyrosine substitution. This mutation is the mouse equivalent of the human C282Y mutation associated with hereditary hemochromatosis. Hfe is under the control of the mouse transthyretin (Ttr) promoter. The construct was microinjected into C57BL/6NCrl fertilized eggs. Founder mice were established and crossed to the C57BL/6J inbred strain for more than 10 generations.
Suggested Control Mice
Wild-type littermates
  • Hematology
  • Metabolism
  • Models for Human Disease
Donor
Paul Schmidt, Ph.D., Boston Children's Hospital 
Primary Reference
Schmidt PJ; Andrews NC; Fleming MD, Hepcidin induction by transgenic overexpression of Hfe does not require the Hfe cytoplasmic tail, but does require hemojuvelin., Blood 2010 Dec 16;116(25):5679-87 (Medline PMID: 20837779)

Colony and Husbandry Information

While maintaining a live colony, these mice are bred as hemizygotes.
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 csmmrrc@jax.org .

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.

Cryopreserved material may be available upon request, please inquire to csmmrrc@jax.org for more information.

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
034671-JAX-SPERM Cryo-preserved spermatozoa $437.00 / Non-Profit Aliquot Approximate quantity3
034671-JAX-RESUS Litter recovered from cryo-archive $2,022.00 / Non-Profit Litter Recovered litter4; additional fees for any special requests.
Cryopreserved material may be available upon request, please inquire to csmmrrc@jax.org for more information.

1 The distribution fee covers the expense of rederiving mice from a live mouse; 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 contains a sufficient number of embryos (in one or more vials or straws and based on the transfer success rate of the MMRRC facility) to transfer into one to three recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

3 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.

4 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.

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.