Strain Name:
B6J.129P2(Cg)-Rr27tm7.1Msb/Mmjax
Stock Number:
065347-JAX
Citation ID:
RRID:MMRRC_065347-JAX
Other Names:
del2,3

Strain Information

Rr27tm7.1Msb
Name: regulatory region 27; targeted mutation 7.1, Marisa S Bartolomei
Synonyms: H19ICRdelta2,3
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 7
Alteration at locus: Targeted Mutation
H19
Name: H19, imprinted maternally expressed transcript
Type: Gene
Species: Mus musculus (mouse)
Chromosome: 7
Alteration at locus: Targeted Mutation
NCBI: 14955
Igf2
Name: insulin-like growth factor 2
Synonyms: M6pr, Mpr, Igf-2, Igf-II, Peg2
Type: Gene
Species: Mouse
Chromosome: 7
Alteration at locus: Targeted Mutation
NCBI: 16002
HGNC: HGNC:5466
Homologene: 510
Rr27
Name: regulatory region 27
Synonyms: IC1, ICR, DMD
Type: Regulatory Region
Species: Mus musculus (mouse)
Chromosome: 7
Alteration at locus: Targeted Mutation
Genetic Alterations
This deletion reduces the size of the ICR by ∼75%, removing 1.3 kb of sequence, 70% of the CpGs and 50% of the CTCF sites (sites 2 and 3)
Genotype Determination
ES Cell Line
E14.1 derived from 129P2/OlaHsd
Phenotype
This deletion caused loss of imprinting at the H19/Igf2 locus resulting in biallelic expression of H19 when paternally transmitted and tissue-specific biallelic expression of Igf2 when maternally transmitted (only in tissues of mesodermal origin) demonstrating this region is essential to proper CTCF-mediated insulator function at the H19/Igf2 ICR. Maternal transmission of the deletion resulted in increased neonatal pup weight and paternal transmission resulted in decreased neonatal pup weight.

In a subsequent study, it was shown that these mice exhibit increased susceptibility/sensitivity to environmental exposure in utero compared to wild-type controls. Mice exposed to methyl donor deficient diet exhibit an increased rate of neonatal death and decreased body weight and body fat mass during development.

This mutant line is part of a series/panel of targeted mutant lines generated to alter individual regulatory sequences at the H19/Igf2 ICR. It was designed to mimic mutations found at the orthologous human locus in patients with Beckwith Wiedemann Syndrome.

Mammalian Phenotype Terms
Allelic Composition: (Genetic Background: )

MeSH Terms
  • Animals
  • Base Sequence
  • Beckwith-Wiedemann Syndrome/genetics
  • CCCTC-Binding Factor
  • DNA Methylation
  • Epigenesis, Genetic
  • Genomic Imprinting
  • Humans
  • Insulator Elements
  • Insulin-Like Growth Factor II/genetics
  • Insulin-Like Growth Factor II/metabolism
  • Mice
  • Mice, Transgenic
  • Mutation
  • Organ Specificity
  • Repressor Proteins/metabolism
  • Sequence Deletion
Strain Development
Targeting vectors were linearized and electroporated into E14.1 ES cells as described previously (PMID:9851976). G418-resistant positive clones were isolated and targeting to the H19/Igf2 locus was confirmed by restriction digestion followed by Southern hybridization as described (PMID:21600199). Correctly targeted ES cell clones were injected into C57BL/6J (B6) blastocysts and mice were generated by the Transgenic & Chimeric Mouse Facility at the University of Pennsylvania. Chimeras were obtained and mated to B6 mice. Germline transmission of the targeted mutant alleles was confirmed in the agouti progeny by DNA isolated from tail biopsies subjected to Southern blot.
Suggested Control Mice
The best control for these animals are the homozygous (+/+) offspring generated by het(+/-) x het(+/-) mating and using the resulting +/+, and -/-, +/- offspring in downstream experiments. C57BL/6 animals may also be used but may not exactly replicate the genetic background.
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.
  • Developmental Biology
  • Models for Human Disease
Donor
Marisa Bartolomei, Ph.D., University of Pennsylvania.
Primary Reference

Ideraabdullah FY, Thorvaldsen JL, Myers JA, Bartolomei MS. Tissue-specificinsulator function at H19/Igf2 revealed by deletions at the imprinting controlregion. Hum Mol Genet. 2014 Dec 1;23(23):6246-59. doi: 10.1093/hmg/ddu344. Epub2014 Jul 2. (Medline PMID: 24990148)

Colony and Husbandry Information

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

MMRRC Breeding System
Random intra-strain mating
Generation
N8+ (C57BL/6J)
Overall Breeding Performance
Excellent
Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Yes Yes
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: Undetermined Undetermined
Bred to Homozygosity
No
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
065347-JAX-SPERM Cryo-preserved spermatozoa $437.00 / Non-Profit Aliquot Approximate quantity3
065347-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.