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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
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 Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation ?+N1p (08-MAY-05)
Generation DefinitionsDonating Investigator Nancy Andrews, Children's Hospital/HHMI Description
Mice that are homozygous for the targeted mutation are viable and fertile. These mice carry the "C282Y" mutant Hfe allele, which encodes a tyrosine to cysteine amino acid substitution at codon 282. Expression of the missense mutation is detected by RT-PCR analysis. Homozygotes exhibit hemochromatosis, accumulating hepatic iron postnatally. These mice have a phenotype that is intermediate between wildtype mice and mice that are homozygous for the null allele, Hfetm2Nca. This mutant mouse strain may be useful in studies of hereditary hemochromatosis.Development
A targeting vector containing the C282Y missense mutation, a tyrosine to cysteine substitution at codon 282, and neomycin resistance and cytosine deaminase genes was used to insert the missense mutation into the endogenous locus. The construct was electroporated into 129S6/SvEvTac derived TC-1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into recipient blastocysts.
Control Information
| Control | ||
|---|---|---|
| See control note: | 129S1/SvImJ mice (Stock No. 002448) may be used as controls. | |
| 002448 129S1/SvImJ | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying other alleles of Hfe
003812 B6.129P2-Hfetm1Gfn/J View Strains carrying other alleles of Hfe (1 strain)
Phenotype
Phenotype Information
Hemochromatosis; HFE - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s). assigned by genotype
Hfetm1.1Nca/Hfetm1.1Nca
involves: 129S6/SvEvTac
- homeostasis/metabolism phenotype
- abnormal iron level
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Hfetm1.1Nca/Hfetm1.1Nca
Background Not Specified
- homeostasis/metabolism phenotype
- increased liver iron level (MGI Ref ID J:62112)
- liver/biliary system phenotype
- increased liver iron level (MGI Ref ID J:62112)
Hfetm1.1Nca/Hfetm1.1Nca
involves: 129S6/SvEvTac * C57BL/6J
- homeostasis/metabolism phenotype
- abnormal iron level
This mouse can be used to support research in many areas including:Hfetm1.1Nca related
Hematological Research
Anemia, Iron Deficiency and Transport Defects
hemochromatosis
Metabolism Research
Hemochromatosis
iron metabolism defects
Mouse/Human Gene Homologs
hemochromatosis
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Hfetm1.1Nca | ||
|---|---|---|---|
| Allele Name | targeted mutation 1.1, Nancy C Andrews | ||
| Allele Type | Targeted (knock-in) | ||
| Common Name(s) | (Y); C282Y; Hfe845A; | ||
| Mutation Made By | Nancy Andrews, Children's Hospital/HHMI | ||
| Strain of Origin | 129S6/SvEvTac | ||
| ES Cell Line Name | TC1/TC-1 | ||
| ES Cell Line Strain | 129S6/SvEvTac | ||
| Gene Symbol and Name | Hfe, hemochromatosis | ||
| Chromosome | 13 | ||
| Gene Common Name(s) | HFE1; HH; HLA-H; MR2; MVCD7; TFQTL2; | ||
| Molecular Note | A hypomorphic allele was generated by removing the floxed selection cassette from Hfetm1Nca, leaving the cytosine to tyrosine missense mutation at codon 282. The substitution disrupts an intramolecular disulfide bond and putatively affects Beta2-microglobulin binding. RT-PCR analysis confirmed the presence of properly spliced transcript in mutant mice. [MGI Ref ID J:78536] | ||
Genotyping
Genotyping Information
Genotyping Protocols
Hfetm1.1Nca, Standard PCR
Helpful Links
Genotyping resources and troubleshooting
References
References provided by MGI
Selected Reference(s)
Levy JE; Montross LK; Cohen DE; Fleming MD; Andrews NC. 1999. The C282Y mutation causing hereditary hemochromatosis does not produce a null allele. Blood 94(1):9-11. [PubMed: 10381492] [MGI Ref ID J:78536]
Additional References
Levy JE; Montross LK; Andrews NC. 2000. Genes that modify the hemochromatosis phenotype in mice [see comments] J Clin Invest 105(9):1209-16. [PubMed: 10791995] [MGI Ref ID J:62112]
Hfetm1.1Nca relatedAjioka RS; Levy JE; Andrews NC; Kushner JP. 2002. Regulation of iron absorption in Hfe mutant mice. Blood 100(4):1465-9. [PubMed: 12149232] [MGI Ref ID J:78346]
Canonne-Hergaux F; Levy JE; Fleming MD; Montross LK; Andrews NC; Gros P. 2001. Expression of the DMT1 (NRAMP2/DCT1) iron transporter in mice with genetic iron overload disorders. Blood 97(4):1138-40. [PubMed: 11159549] [MGI Ref ID J:67402]
Cooksey RC; Jouihan HA; Ajioka RS; Hazel MW; Jones DL; Kushner JP; McClain DA. 2004. Oxidative stress, beta-cell apoptosis, and decreased insulin secretory capacity in mouse models of hemochromatosis. Endocrinology 145(11):5305-12. [PubMed: 15308612] [MGI Ref ID J:94006]
Levy JE; Montross LK; Andrews NC. 2000. Genes that modify the hemochromatosis phenotype in mice [see comments] J Clin Invest 105(9):1209-16. [PubMed: 10791995] [MGI Ref ID J:62112]
Muckenthaler M; Roy CN; Custodio AO; Minana B; deGraaf J; Montross LK; Andrews NC; Hentze MW. 2003. Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis. Nat Genet 34(1):102-7. [PubMed: 12704390] [MGI Ref ID J:108980]
Roy CN; Custodio AO; de Graaf J; Schneider S; Akpan I; Montross LK; Sanchez M; Gaudino A; Hentze MW; Andrews NC; Muckenthaler MU. 2004. An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice. Nat Genet 36(5):481-5. [PubMed: 15098034] [MGI Ref ID J:90506]
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, RG10/RG30.Colony Maintenance
Breeding & Husbandry The resulting chimeric animals were crossed to129S6/SvEvTac mice, and then crossed to a 129 adenovirus EIIa promoter driven cre deleter strain to remove the floxed selection cassette.
Purchasing information
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $1980.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Embryos
Price (US dollars $) Frozen Embryo $1600.00 Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
Supply Notes
- Cryopreserved Embryos
Available to most shipping destinations1
This strain is also available as cryopreserved embryos2. Orders for cryopreserved embryos may be placed with our Customer Service Department. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos, please visit our Cryopreserved Embryos web page.
1 Shipments cannot be made to Australia due to Australian government import restrictions.
2 Embryos for most strains are cryopreserved at the two cell stage while some strains are cryopreserved at the eight cell stage. If this information is important to you, please contact Customer Service.- Cryorecovery - Standard.
We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
| Pricing for International shipping destinations |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2574.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Embryos
Price (US dollars $) Frozen Embryo $2080.00 Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
Supply Notes
- Cryopreserved Embryos
Available to most shipping destinations1
This strain is also available as cryopreserved embryos2. Orders for cryopreserved embryos may be placed with our Customer Service Department. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos, please visit our Cryopreserved Embryos web page.
1 Shipments cannot be made to Australia due to Australian government import restrictions.
2 Embryos for most strains are cryopreserved at the two cell stage while some strains are cryopreserved at the eight cell stage. If this information is important to you, please contact Customer Service.- Cryorecovery - Standard.
We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
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Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
General Supply Notes
- This strain is included in the Induced Mutant Resource Colony collection.
Control Information
| Control | ||
|---|---|---|
| See control note: | 129S1/SvImJ mice (Stock No. 002448) may be used as controls. | |
| 002448 129S1/SvImJ | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
Payment Terms and Conditions
Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.
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The Jackson Laboratory's Genotype Promise
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.Ordering Information
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Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
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| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
JAX® Mice, Products & Services Conditions of Use
"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.No Warranty
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