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-Dp(11Cops3-Zfp179)1Jrl/J    (Changed: 01-AUG-11 ) Type Chromosome Aberration; Duplication; 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. Species laboratory mouse Generation ?+N1p (29-JAN-06) Generation Definitions   Donating Investigator James R. Lupski,   Baylor College of Medicine

Description
Homozygous mutant mice are viable and fertile. Studies employing heterozygous mutant mice (where the duplication exists only on one chromosome) indicate that mutant mice weigh less than their wildtype litter mates. Spleens are noted to be slightly smaller than those from wild type mice. Mutant mice also exhibit impaired contextual fear conditioning. Male heterozygotes have been shown to be hyperactive in open field analysis. This mutant mouse may be useful in studies exploring the consequences of duplications involving the SMS critical interval. (Mice bearing the reciprocal deficiency mutation are also available; see Stock: 005535)

Development
Chromosome-engineering cassettes were inserted into mouse chromosome 11 of 129S5/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 resitance 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-Tyr^c-Brdblastocysts and the resulting chimeric mice were mated to C57BL/6-Tyr^c-Brd mice for nine generations 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

Duplication

005383

B6.129S6-Dp(16Cbr1-ORF9)1Rhr/J

View Duplication     (1 strain)

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.

Potocki-Lupski Syndrome; PTLS

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Dp(11Cops3-Rnf112)1Jrl/0

        involves: 129S7/SvEvBrd * C57BL/6

• adipose tissue phenotype
• decreased abdominal fat pad weight
  • abdominal fat pad weight is reduced (0.30+/-0.06 g compared to 0.56+/-0.05 g in wild-type mice)   (MGI Ref ID J:83302)
• decreased percent body fat
  • 1.2% compared to 2% in wild-type mice   (MGI Ref ID J:83302)
• growth/size phenotype
• decreased body weight
  • mice weigh less than wild-type mice in the first month after birth and the difference in body weight persists for throughout their lifespan   (MGI Ref ID J:83302)
• hematopoietic system phenotype
• decreased spleen weight
  • 0.056+/-0.006 g compared to 0.070+/-0.004 g in wild-type mice   (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)
• • abnormal anxiety-related response
    • male mice, but not female mice, exhibit fewer light-dark transitions compared to wild-type mice in a light-dark test   (MGI Ref ID J:88027)
  • abnormal contextual conditioning behavior
    • male mice, but not female mice, display less freezing following contextual conditioning   (MGI Ref ID J:88027)
  • decreased startle reflex
    • mice startle less than wild-type mice   (MGI Ref ID J:88027)
  • hyperactivity
    • mice spend more time moving than wild-type mice   (MGI Ref ID J:88027)
    • male mice, but not female mice, travel further and spend more time moving than wild-type mice   (MGI Ref ID J:88027)
• nervous system phenotype
• *normal* nervous system phenotype
  • no evidence of epileptic seizures are detected   (MGI Ref ID J:83302)
• reproductive system phenotype
• *normal* reproductive system phenotype
  • mice have normal fertility   (MGI Ref ID J:83302)
• vision/eye phenotype
• *normal* vision/eye phenotype
  • mice have normal eye development   (MGI Ref ID J:83302)
• immune system phenotype
• decreased spleen weight
  • 0.056+/-0.006 g compared to 0.070+/-0.004 g in wild-type mice   (MGI Ref ID J:83302)

Dp(11Cops3-Rnf112)1Jrl/0

        B6Brd.Cg-Tyr^c-Brd Dp(11Cops3-Rnf112)1Jrl

• behavior/neurological phenotype
• abnormal contextual conditioning behavior
  • mice exhibit impaired contextual conditioning (12.6+/-2.5% freezing to context compared to 36.0+/-6.5 in wild-type mice)   (MGI Ref ID J:114996)
• abnormal social/conspecific interaction
  • mice exhibit increased dominance compared with wild-type mice   (MGI Ref ID J:138598)
  • however, mice exhibit normal aggression   (MGI Ref ID J:138598)
• • abnormal nest building behavior
    • 6.5 hours after introducing a paper towel to cages, only half of mice build nest compared with all wild-type mice   (MGI Ref ID J:138598)
  • abnormal social investigation
    • mice exhibit impaired sociability and response to social novelty compared with wild-type mice   (MGI Ref ID J:138598)
• abnormal vocalization
  • only half of mice vocalize during handling compared with all wild-type mice   (MGI Ref ID J:138598)
• decreased exploration in new environment
  • mice exhibit decreased center to total distance ratio explored (0.26+/-0.01 compared to 0.33+/-0.04 in wild-type mice)   (MGI Ref ID J:114996)
• decreased vertical activity
  • mice exhibit decreased vertical activity (305+/-22 incidents compared to 499+/-60 incidences in wild-type mice)   (MGI Ref ID J:114996)
• hyperactivity   (MGI Ref ID J:114996)
• increased anxiety-related response
  • in an elevated plus maze   (MGI Ref ID J:138598)
• nervous system phenotype
• decreased brain weight
  • at 12 weeks   (MGI Ref ID J:138598)
• growth/size phenotype
• decreased body weight
  • at 12 weeks   (MGI Ref ID J:138598)
• adipose tissue phenotype
• decreased abdominal fat pad weight   (MGI Ref ID J:138598)

Dp(11Cops3-Rnf112)1Jrl/Dp(11Cops3-Rnf112)1Jrl

        involves: 129S7/SvEvBrd * C57BL/6

• growth/size phenotype
• decreased body weight
  • mice weigh even less than wild-type mice compared to Dp(11Cops3-Zfp179)1Jrl heterozygotes in the first month after birth and the difference in body weight persists for throughout their lifespan   (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
Growth Defects

Neurobiology Research
Behavioral and Learning Defects

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Dp(11Cops3-Rnf112)1Jrl
Allele Name		duplication, Chr 11, James R Lupski 1
Allele Type		Targeted (other)
Common Name(s)		Dp(11)17; dup(11)(Csn3-Zfp179); dup(Csn3-Zfp179);
Mutation Made By		Katherina Walz,   Baylor College of Medicine
Strain of Origin		129S7/SvEvBrd-Hprt
ES Cell Line Name		AB2.2
ES Cell Line Strain		129S7/SvEvBrd-Hprt
Gene Symbol and Name		Dp(11Cops3-Rnf112)1Jrl, duplication, Chr 11, James R Lupski 1
Chromosome		11
Gene Common Name(s)		Dp(11)17; Dp(11Cops3-Zfp179)1Jrl; dup(11)(Csn3-Zfp179);
Molecular Note		The engineered chromosome bears a duplication of a ~3 Mb segment of Chr 11 containing 19 genes including Cops3 (a.k.a. Csn3), which only in the duplicate copy is interrupted (and inactivated) by an insertion; the entire coding region, but not the final, untranslated exon of Rnf112 (formerly Zfp179); and all the intervening DNA. The insertion in Cops3 contains a tyrosinase minigene and a transgene comprising wild-type agouti cDNA under control of the human keratin 14 promoter. [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

Dp(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]

Lacaria M; Spencer C; Gu W; Paylor R; Lupski JR. 2012. Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits. Hum Mol Genet 21(14):3083-96. [PubMed: 22492990]  [MGI Ref ID J:185284]

Molina J; Carmona-Mora P; Chrast J; Krall PM; Canales CP; Lupski JR; Reymond A; Walz K. 2008. Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome. Hum Mol Genet 17(16):2486-95. [PubMed: 18469339]  [MGI Ref ID J:138598]

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]

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 & Husbandry	When maintaining a live colony, these mice are bred as heterozygotes.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

General Supply Notes

• Genomic DNA is available for this strain from the Mouse DNA Resource.

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'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.

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