Strain Name:
B6.Cg-Fechtm1.1(FECH*)Emi/Mmjax
Stock Number:
044050-JAX
Citation ID:
RRID:MMRRC_044050-JAX
Other Names:
C57BL/6J-FechTm1(FECH)Emi

Strain Information

Fechtm1.1(FECH*)Emi
Name: ferrochelatase; targeted mutation 1.1, Elisabeth Minder
Synonyms: Emi, c.315-48C FECH
Type: Allele
Species: Multi-species
Chromosome: 18
Alteration at locus: Knock-In
Fech
Name: ferrochelatase
Synonyms: fch, Fcl
Type: Gene
Species: Mouse
Chromosome: 18
Alteration at locus: Knock-In
NCBI: 14151
VEGA: 18
HGNC: HGNC:3647
Homologene: 113
FECH
Name: ferrochelatase
Type: Gene
Species: Homo sapiens (human)
Chromosome: 18
Alteration at locus: Knock-In
Genetic Alterations
Replacement, by homologous recombination, of region from BspHI site in exon 3 to BamH1 site in exon 4 of the Fech gene by the corresponding sequences from the human FECH gene carrying the NM_000140.4:c.315-48T>C polymorphism that increases the use of an aberrant 3' splice site 63 nucleotides upstream of exon 4, as described in PMID:11753383. The c.315-48T>C polymorphism reduces FECH expression by about 50% in humans. Moreover, in combination with a FECH null allele, it is responsible for approx. 95% of the human cases of erythropoietic protoporphyria.
ES Cell Line
Bruce4 derived from B6.PL-Thy1a/CyJ
Phenotype
Homozygous fetal lethality. Heterozygous no clinical symptoms, but marginal elevation of protoporphyrin IX level. In combination with the Fechm1Pas allele (MGI:1858114), very severe form of erythropoietic protoporphyria.
MeSH Terms
  • Alleles
  • Alternative Splicing/genetics
  • Animals
  • Base Sequence
  • Blood Cells/pathology
  • Breeding
  • Disease Models, Animal
  • Exons/genetics
  • Ferrochelatase/genetics
  • Genotype
  • Homologous Recombination/genetics
  • Humans
  • Light
  • Liver/pathology
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Mutation/genetics
  • Organ Size
  • Protoporphyria, Erythropoietic/blood
  • Protoporphyria, Erythropoietic/enzymology
  • Protoporphyria, Erythropoietic/genetics
  • Protoporphyria, Erythropoietic/pathology
  • RNA, Messenger/genetics
  • RNA, Messenger/metabolism
  • Skin/pathology
  • Skin/radiation effects
  • DNA, Antisense/genetics
  • Female
  • Ferrochelatase/biosynthesis
  • Ferrochelatase/physiology
  • France/epidemiology
  • Gene Expression Regulation, Enzymologic
  • Gene Frequency
  • Genes, Dominant
  • Haplotypes
  • Introns/genetics
  • Male
  • Molecular Sequence Data
  • Penetrance
  • Point Mutation
  • Polymorphism, Genetic
  • Porphyria, Erythropoietic/epidemiology
  • Porphyria, Erythropoietic/genetics
  • Protoporphyria, Erythropoietic
  • RNA Splice Sites/genetics
Strain Development
A recombination plasmid containing human sequences from BspHI site in exon 3 to BamHI site in exon 4 of FECH gene between mouse homology arms and a floxed neomycin cassette in a PacI site in intron 4 was introduced into Bruce4 ES cells, and homologous recombinant cells were selected. Recombinant cells were injected into BALB/cJ blastocysts. A 90% transgenic chimera (123_021M) was crossed to a C57BL/6 female to produce heterozygous transgenic (KI) founders still containing the Neo selection cassette. Two female founders were crossed to separate OzCreHo2 males (expressing Cre recombinase from the Gt(ROSA)26Sor locus on a C57BL/6J background), to produce F1 heterozygous KI animals lacking the Neo selection cassette. All these procedures were done at Ozgene Australia. Four F1 animals from the two crossings mentioned above and born in June 2013 were then shipped to the University of Bern, where the strain wa maintained by crossing heterozygous KI animals (homozygous animals being subject to fetal lethality). In August 2016, the strain was transferred to the ETH Zürich, from where it was donated to the MMRRC.

Note: The animals no longer contain the Cre recombinase allele Gt(ROSA)26Sortm1(PGK1-cre) used to excise the Neo selection cassette. The strain may carry the Thy1a allele as a carryover from the ES cells (Bruce4) since no effort was undertaken to breed it out. Thy1a is not on chromosome 18, and intercrossing heterozygous mice for 12 generations may have resulted in the alleles' loss. Genotyping primer sequences for the cre allele are available on request.
Suggested Control Mice
C57BL/6J or wt/wt from same litter
MMRRC Genetic QC Summary
The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact csmmrrc@jax.org. Older strains may not have this information.
  • Dermatology
  • Hematology
  • Internal/Organ
  • Models for Human Disease
  • Sensorineural
Donor
Elisabeth I. Minder, Ph.D Triemli City Hospital, Zürich Switzerland
Primary Reference

Barman-Aksözen J, C Wiek P, Bansode VB, Koentgen F, Trüb J, Pelczar P, CinelliP, Schneider-Yin X, Schümperli D, Minder EI. Modeling the ferrochelatasec.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice. Dis Model Mech. 2017 Mar 1;10(3):225-233. doi: 10.1242/dmm.027755. Epub 2017 Jan 12. (Medline PMID: 28093505)

Gouya L, Puy H, Robreau AM, Bourgeois M, Lamoril J, Da Silva V, Grandchamp B, Deybach JC. The penetrance of dominant erythropoietic protoporphyria is modulatedby expression of wildtype FECH. Nat Genet. 2002 Jan;30(1):27-8. Epub 2001 Dec 20.(Medline PMID: 11753383)

Colony and Husbandry Information

The strain must be maintained as hets, due to fetal lethality in homozygous animals.

Cryo-recovered strains distributed by the MMRRC at JAX are shipped to the customer from the Pathogen & Opportunistic-Free Animal Room G200 - see https://www.jax.org/jax-mice-and-services/customer-support/customer-service/animal-health/health-status-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 csmmrrc@jax.org.
Coat Color
Black
Eye
Black
Other
The high degree of embryonic/fetal lethality and the very severe phenotype of /Fechtm1.1(FECH*)Emi/Fechm1Pas hybrid mice is due to an additional, unintended mis-splicing (skipping of the hybrid exon 3 in most of the Fech transcripts).
MMRRC Breeding System
Random intra-strain mating
Generation
F10-12
Overall Breeding Performance
Good
NOTE: "Hemizygote" as used here refers to males carrying a mutation on the X Chromosome or mice of either sex carrying an inserted transgene with no homologous allele on the other chromosome.
Viability and Fertility: Female Male Comments
Homozygotes are viable: No No
Homozygotes are fertile: N/A N/A
Hetero/Hemizygotes are fertile: Yes Yes
Age Reproductive Decline: Undetermined Undetermined
Average litter size
4-6
Recommended wean age
3 Weeks
Average Pups Weaned
4-6

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 $)
*Shipping & Handling not included*
Units Notes
044050-JAX-SPERM Cryo-preserved spermatozoa $437.00 / Non-Profit Aliquot Approximate quantity3
044050-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.