Strain Name: |
B6.129S7-Del(11Cops3-Zfp179)1Jrl/J |
|---|---|
Stock Number: |
005535 |
Availability: | Repository-Cryopreserved |
General Terms and Conditions |
| Genes & Alleles | Del(11Cops3-Zfp179)1Jrl; |
Product Information
Strain Details
Type Chromosome Aberration Additional information on Mice with Chromosomal Aberrations. Type JAX® GEMM® Strain - Congenic Additional information on JAX® GEMM® Strains. Type Deletion Additional information on Mice with Chromosomal Aberrations. Type JAX® GEMM® Strain - Mutant Strain Type JAX® GEMM® Strain - Targeted Mutation Species laboratory mouse Donating Investigator James Lupski, Baylor College of Medicine Strain Description
These mutant mice possess an engineered deletion spanning approximately 3 Mb on mouse Chromosome 11. The region involved encompasses a chromosomal segement that shares conserved synteny with the Smith-Magenis syndrome (SMS) critical interval on human Chromosome 17. Mice carrying one copy of the deletion prove to be viable while mice homozygous for the deletion are embryonic lethal. Heterozygous males suffer from reduced fertility, exhibiting reduced sperm counts and an increase in sperm structural abnormalities. Mutant mice weigh less than their wild type littermates at birth but rapidly gain weight such that by 4 months of age, they exceed wild type weight and eventually become obese (60 grams by 8 months of age). Mutant mice exhibit craniofacial abnormalities characterized by overall shorter skulls with broader, shorter snouts and nasal bones. Mutants also produce abnormal electroencephalograms (EEG) with tonic clonic-type seizures being observed in 22% of the mice tested. Behavioral studies involving heterozygous mice found that male mutants are hypoactive and display a shorter average circadian period than wildtype mice. This mutant mouse may be useful in studies exploring the consequences of deletions involving the SMS critical interval. (Mice bearing the reciprocal duplication are also available; see Stock: 005536)Strain Development
Chromosome-engineering cassettes were inserted into mouse chromosome 11 of 129S7/SvEvBrd-derived AB2.2 embryonic stem (ES) cells, bracketing a span of approximately 3 Mb between the Cops (proximal point) and Zfp179 (distal point) loci. The cassette placed at the distal locus contained most of the Zfp179 gene (excluding exon 16), a tyrosinase minigene, a 5' portion of an hprt minigene, a loxP site and neomycin resistance gene. The cassette placed at the proximal locus contained Cops exons III to VI, a puromycin resistance gene, a loxP site, a 3' portion of an hprt minigene and a Krt1-14-agouti transgene. Double-targeted ES cells were subjected to transient cre recombinase expression with subsequent selection of recombinants buy using HAT media. Correctly targeted ES cells were injected into C57BL/6-Tyrc-Brd blastocysts and the resulting chimeric mice were mated to C57BL/6-Tyrc-Brd mice for eight generations (4/2005) before being mated to C57BL/6J at The Jackson Laboratory.
Gene & Allele Details
| Allele Symbol | Del(11Cops3-Zfp179)1Jrl | ||
|---|---|---|---|
| Allele Name | deletion, Chr 11, James R Lupski 1 | ||
| Common Name(s) | Del(11Csn3-Zfp179)1Jrl; Del1Jrl; df(11)17; | ||
| Mutation Made By | Katherina Walz, Baylor College of Medicine | ||
| Strain of Origin | 129S7/SvEvBrd-Hprt1 | ||
| ES Cell Line Name | AB2.2 | ||
| ES Cell Line Strain | 129S7/SvEvBrd-Hprt1 | ||
| Molecular Note | A deletion between Csn3 and Zfp179 was engineered in ES cells by targeted insertion of complementary partial Hprt-loxP constructs at each site. Cre recombinase actived deleted the intervening region and reconstructed the Hprt minigene for selection purposes. [MGI Ref ID J:83302] | ||
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 000664 C57BL/6J | ||
| Considerations for Choosing Controls | ||
Colony Maintenance
| Breeding & Husbandry | When maintaining a live colony, these mice are bred as heterozygotes (mice carry only one copy of the deletion). |
|---|---|
| Diet Information | LabDiet® 5K52/5K67 |
Related Strains
Deletion
003374 B6;129S2-H2dlAb1-Ea/J 005654 B6C3-Del(16Cbr1-ORF9)1Rhr/J 002802 C3.BLiA Pde6b+-Krd/J 004406 C3HeB/FeJ-Pou3f4del-J/J 002142 STOCK 11R30m/J 004711 STOCK Ednrbs-52Pub View Deletion (6 strains)
Additional Web Information
Genetic Quality Control Annual Report
Research Applications
This mouse can be used to support research in many areas including:
Developmental Biology Research
Craniofacial and Palate Defects
Embryonic Lethality (Homozygous)
Reproductive Biology Research
Fertility Defects
References
Selected Reference(s)
Additional ReferencesWalz K; Caratini-Rivera S; Bi W; Fonseca P; Mansouri DL; Lynch J; Vogel H; Noebels JL; Bradley A; Lupski JR. 2003. Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance. Mol Cell Biol 23(10):3646-55. [PubMed: 12724422] [MGI Ref ID J:83302]
Price and Supply Information
| Strain Name: | B6.129S7-Del(11Cops3-Zfp179)1Jrl/J |
| Stock Number: | 005535 |
Price Details
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Supply Details
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
Cryopreserved Embryos This strain is also available as cryopreserved embryos from our Repository. Orders for cryopreserved embryos are supplied subject to a signed agreement that must be returned to the Customer Service Department after order placement. 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 from our repository, please visit our Cryopreserved Embryos web page. Cryorecovery - Standard. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. |
| Licensing | See General Terms and Conditions below for Licensing and Use Restrictions |
| Control Information | View Control Information in Strain Details. |
General Terms and Conditions
View JAX® Mice & Services Conditions of Use.
Effective September 26, 2007: License Requirements for Strains using Cre-lox Technology only apply in Canada, see Licenses for Strains using Cre-lox Technology.
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- Use of MICE by companies or for-profit entities requires a license prior to shipping.
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 and Purchasing Information
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