Strain Name:

B6.129S7-Del(11Cops3-Rnf112)1Jrl/J

Stock Number:

005535

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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

Former Names B6.129S7-Del(11Cops3-Zfp179)1Jrl/J    (Changed: 09-JUN-11 )
Type Chromosome Aberration; Deletion;
Additional information on Mice with Chromosomal Aberrations.
Type Congenic; Mutant Strain; Targeted Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Specieslaboratory mouse
Generation?+N1p (11-DEC-05)
Generation Definitions
 
Donating Investigator James R. Lupski,   Baylor College of Medicine

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)

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 by 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.

Control Information

  Control
   Wild-type from the colony
   000664 C57BL/6J
 
  Considerations for Choosing Controls

Related Strains

View Deletion     (6 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Characteristics of this human disease are associated with transgenes and other mutation types in the mouse.
Smith-Magenis Syndrome; SMS
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.

Del(11Cops3-Rnf112)1Jrl/+

        involves: 129S7/SvEvBrd * C57BL/6
  • reproductive system phenotype
  • abnormal gametogenesis   (MGI Ref ID J:83302)
    • abnormal sperm flagellum morphology
      • sperm with a higher proportion of abnormal tails   (MGI Ref ID J:83302)
    • oligozoospermia
      • sperm counts reduced although testes are normal   (MGI Ref ID J:83302)
  • reduced male fertility   (MGI Ref ID J:83302)
  • craniofacial phenotype
  • abnormal cranium morphology   (MGI Ref ID J:83302)
    • abnormal nasal bone morphology   (MGI Ref ID J:83302)
      • broad nasal bone   (MGI Ref ID J:83302)
      • short nasal bone   (MGI Ref ID J:83302)
    • decreased cranium height   (MGI Ref ID J:83302)
  • short snout
    • broader shorter snout   (MGI Ref ID J:83302)
  • growth/size/body phenotype
  • abnormal body weight   (MGI Ref ID J:83302)
    • obese
      • mice were significantly overweight at 4 months of age   (MGI Ref ID J:83302)
  • decreased birth weight
    • underweight at birth   (MGI Ref ID J:83302)
  • increased percent body fat
    • 4.5% compared to 2% in wild-type mice   (MGI Ref ID J:83302)
  • short snout
    • broader shorter snout   (MGI Ref ID J:83302)
  • adipose tissue phenotype
  • increased abdominal fat pad weight
    • abdominal fat pad weight is increased (1.93+/-0.20 g compared to 0.56+/-0.05 g in wild-type mice)   (MGI Ref ID J:83302)
  • increased percent body fat
    • 4.5% compared to 2% in wild-type mice   (MGI Ref ID J:83302)
  • nervous system phenotype
  • abnormal brain wave pattern
    • EEG showed paroxysmal spikes and slow discharges   (MGI Ref ID J:83302)
  • seizures
    • 6 females and 1 male exhibited seizures   (MGI Ref ID J:88027)
    • tonic-clonic seizures
      • overt clinical seizures seen at 4 weeks to 6 months of age   (MGI Ref ID J:83302)
      • generalized tonic clonic seizures   (MGI Ref ID J:83302)
      • seizures could occur without a clear EEG signature   (MGI Ref ID J:83302)
  • skeleton phenotype
  • abnormal cranium morphology   (MGI Ref ID J:83302)
    • abnormal nasal bone morphology   (MGI Ref ID J:83302)
      • broad nasal bone   (MGI Ref ID J:83302)
      • short nasal bone   (MGI Ref ID J:83302)
    • decreased cranium height   (MGI Ref ID J:83302)
  • behavior/neurological phenotype
  • abnormal behavior
    • self-injury behavior is observed   (MGI Ref ID J:88027)
    • however, no self-injury behavior is observed when mice are single housed   (MGI Ref ID J:88027)
    • decreased vertical activity
      • male mice, but not female mice, rear less frequently than wild-type mice although the amount of rearing is equivalent   (MGI Ref ID J:88027)
      • however, there is no difference in rearing response in female mice   (MGI Ref ID J:88027)
    • hypoactivity
      • when placed in an open field, mice are hypoactive as measured by total distance and movement time data   (MGI Ref ID J:88027)
      • when placed in an open field, male mice travel less distance and spend less time moving compared to wild-type mice   (MGI Ref ID J:88027)
      • however, there is no difference in total distance, movement time or rearing response in female mice   (MGI Ref ID J:88027)
    • seizures
      • 6 females and 1 male exhibited seizures   (MGI Ref ID J:88027)
      • tonic-clonic seizures
        • overt clinical seizures seen at 4 weeks to 6 months of age   (MGI Ref ID J:83302)
        • generalized tonic clonic seizures   (MGI Ref ID J:83302)
        • seizures could occur without a clear EEG signature   (MGI Ref ID J:83302)
    • shortened circadian period
      • 23.60+/-0.06 hours compared to 23.87+/-0.02 hours in wild-type mice   (MGI Ref ID J:88027)
  • cellular phenotype
  • abnormal sperm flagellum morphology
    • sperm with a higher proportion of abnormal tails   (MGI Ref ID J:83302)
View Research Applications

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

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Del(11Cops3-Rnf112)1Jrl
Allele Name deletion, Chr 11, James R Lupski 1
Allele Type Targeted
Common Name(s) Del(11Csn3-Zfp179)1Jrl; Del1Jrl; df(11)17;
Mutation Made By Katherina Walz,   Baylor College of Medicine
Strain of Origin129S7/SvEvBrd-Hprt
ES Cell Line NameAB2.2
ES Cell Line Strain129S7/SvEvBrd-Hprt
Gene Symbol and Name Del(11Cops3-Rnf112)1Jrl, deletion, Chr 11, James R Lupski 1
Chromosome 11
Gene Common Name(s) Del(11Cops3-Zfp179)1Jrl; Del(11Csn3-Zfp179)1Jrl; Del1Jrl; Df(11)17;
Molecular Note A deletion between Cops3 and Rnf112 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]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Walz 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]

Additional References

Del(11Cops3-Rnf112)1Jrl related

Bi W; Yan J; Shi X; Yuva-Paylor LA; Antalffy BA; Goldman A; Yoo JW; Noebels JL; Armstrong DL; Paylor R; Lupski JR. 2007. Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes. Hum Mol Genet 16(15):1802-13. [PubMed: 17517686]  [MGI Ref ID J:125089]

Lacaria M; Saha P; Potocki L; Bi W; Yan J; Girirajan S; Burns B; Elsea S; Walz K; Chan L; Lupski JR; Gu W. 2012. A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men. PLoS Genet 8(5):e1002713. [PubMed: 22654670]  [MGI Ref ID J:185193]

Ricard G; Molina J; Chrast J; Gu W; Gheldof N; Pradervand S; Schutz F; Young JI; Lupski JR; Reymond A; Walz K. 2010. Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. PLoS Biol 8(11):e1000543. [PubMed: 21124890]  [MGI Ref ID J:170239]

Walz K; Paylor R; Yan J; Bi W; Lupski JR. 2006. Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2). J Clin Invest 116(11):3035-41. [PubMed: 17024248]  [MGI Ref ID J:114996]

Walz K; Spencer C; Kaasik K; Lee CC; Lupski JR; Paylor R. 2004. Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2). Hum Mol Genet 13(4):367-78. [PubMed: 14709593]  [MGI Ref ID J:88027]

Yan J; Bi W; Lupski JR. 2007. Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike. Am J Hum Genet 80(3):518-25. [PubMed: 17273973]  [MGI Ref ID J:125240]

Yan J; Keener VW; Bi W; Walz K; Bradley A; Justice MJ; Lupski JR. 2004. Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome. Hum Mol Genet 13(21):2613-24. [PubMed: 15459175]  [MGI Ref ID J:94405]

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, G200.

Colony Maintenance

Breeding & HusbandryWhen maintaining a live colony, these mice are bred as heterozygotes (mice carry only one copy of the deletion).
Diet Information LabDiet® 5K52/5K67

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2525.00
Animals Provided

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.

Frozen Products

Price (US dollars $)
Frozen Embryo $1650.00

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet 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.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. 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. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 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 View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3283.00
Animals Provided

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.

Frozen Products

Price (US dollars $)
Frozen Embryo $2145.00

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet 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.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. 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. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 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).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Control Information

  Control
   Wild-type from the colony
   000664 C57BL/6J
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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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.
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