Description

Strain Information

Former Names B6.129S6-Is(16Cbr1-ORF9)1Rhr/J    (Changed: 08-APR-05 ) B6.129S6-Is(16Cbr1-ORF9)1Rhr    (Changed: 07-APR-05 ) Type Chromosome Aberration; Duplication; Insertion; Additional information on Mice with Chromosomal Aberrations. Type Mutant Strain; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse   Donating Investigator Roger Reeves,   Johns Hopkins Univ. Schl. Med

Description
These mice are trisomic for the mouse chromosome segment orthologus to the human chromosome 21 Down syndrome critical region (DSCR). The borders of the 3.9 Mb region are defined by the carbonyl reductase 1 gene and a site adjacent to the myxovirus (influenza virus) resistance 2 locus. Trisomic mice are viable, fertile and are significantly larger than euploid littermates. Mandible size is enlarged as is skull size, with an overall elongation of the rostrocaudal aspect in comparison to euploid littermates. This mouse may be useful in studies exploring the consequences of polyploidy involving the DSCR.

Development
A targeting vector was used to introduce a sequence encoding a 3'portion of a neomycin resistance gene, a loxP site and a hygromycin resistance gene at the carbonyl reductase 1 locus in 129S6/SvEv-derived MC1 embryonic stem (ES) cells. Correctly targeted ES cells were selected and electroporated with another targeting vector designed to orient a puromycin resistance gene, a loxP site and a 5'portion of a neomycin resistance gene, adjacent to the myxovirus (influenza virus) resistance 2 locus. A CAGGS-cre expression vector was electroporated into ES cells harboring both targeted mutations. Cre-mediated recombinants that possessed a functional neomycin resistance gene were obtained and injected into ICR blastocysts. Chimeric animals were crossed to C57BL/6 mice for at least 8 generations (4/2005).

Control Information

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

Related Strains

Duplication

005536

B6.129S7-Dp(11Cops3-Zfp179)1Jrl/J

View Duplication     (1 strain)

Additional Web Information

Genetic Quality Control Annual Report

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Dp(16Cbr1-ORF9)1Rhr/0

        B6.129S6-Dp(16Cbr1-ORF9)1Rhr

• behavior/neurological phenotype
• *normal* behavior/neurological phenotype (MGI Ref ID J:121764)
  • mice perform similar to control mice in a Morris water maze with a visible or hidden platform and have normal long term potentials

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

Dp(16Cbr1-ORF9)1Rhr/0

        involves: 129S6/SvEvTac * C57BL/6

• nervous system phenotype
• decreased brain size (MGI Ref ID J:121764)
  • brain size is 85% of that in control mice
• small cerebellum (MGI Ref ID J:121764)
  • cerebellum size if 95% of that in control mice
• growth/size phenotype
• increased body size (MGI Ref ID J:93223)
• increased body weight (MGI Ref ID J:121764)
• skeleton phenotype
• abnormal mandible morphology (MGI Ref ID J:93223)
  • mandibles are overall enlarged
• enlarged skull (MGI Ref ID J:93223)
• long femur (MGI Ref ID J:93223)
• craniofacial phenotype
• abnormal mandible morphology (MGI Ref ID J:93223)
  • mandibles are overall enlarged
• enlarged skull (MGI Ref ID J:93223)
• limbs/digits/tail phenotype
• long femur (MGI Ref ID J:93223)

Genes & Alleles

Gene & Allele Information

Allele Symbol		Dp(16Cbr1-ORF9)1Rhr
Allele Name		duplication, Chr 16, H R Reeves 1
Allele Type		Targeted (other)
Common Name(s)		Ts1Rhr;
Mutation Made By		Roger Reeves,   Johns Hopkins Univ. Schl. Med
Strain of Origin		129S6/SvEvTac
ES Cell Line Name		MC1
ES Cell Line Strain		129S6/SvEvTac
Molecular Note		A duplication of a 3.9 Mb region on chromosome 16 was engineered by Cre-mediated recombination between inserted loxP sites located on different chromosomes. This duplicated segment contains mouse orthologs of 33 conserved and minimally conserved genes in the human Down's syndrome critical region. [MGI Ref ID J:93223]

Genotyping

Genotyping Information

Genotyping Protocols

Dp(16Cbr1-ORF9)1Rhr, STD PCR, vers. 1

Helpful Links

Optimizing PCR Protocols

References

References

Selected Reference(s)

Olson LE; Richtsmeier JT; Leszl J; Reeves RH. 2004. A chromosome 21 critical region does not cause specific down syndrome phenotypes. Science 306(5696):687-90. [PubMed: 15499018]  [MGI Ref ID J:93223]

Additional References

Dp(16Cbr1-ORF9)1Rhr related

Belichenko PV; Masliah E; Kleschevnikov AM; Villar AJ; Epstein CJ; Salehi A; Mobley WC. 2004. Synaptic structural abnormalities in the Ts65Dn mouse model of Down Syndrome. J Comp Neurol 480(3):281-98. [PubMed: 15515178]  [MGI Ref ID J:94569]

Olson LE; Roper RJ; Sengstaken CL; Peterson EA; Aquino V; Galdzicki Z; Siarey R; Pletnikov M; Moran TH; Reeves RH. 2007. Trisomy for the Down syndrome 'critical region' is necessary but not sufficient for brain phenotypes of trisomic mice. Hum Mol Genet 16(7):774-82. [PubMed: 17339268]  [MGI Ref ID J:121764]

Rachidi M; Lopes C. 2007. Mental retardation in Down syndrome: from gene dosage imbalance to molecular and cellular mechanisms. Neurosci Res 59(4):349-69. [PubMed: 17897742]  [MGI Ref ID J:128743]

Sussan TE; Yang A; Li F; Ostrowski MC; Reeves RH. 2008. Trisomy represses Apc(Min)-mediated tumours in mouse models of Down's syndrome. Nature 451(7174):73-5. [PubMed: 18172498]  [MGI Ref ID J:131046]

Health & husbandry

Health & Colony Maintenance Information

Colony Maintenance

Breeding & Husbandry	When maintaining a live colony, these mice are maintained in a trisomic state by crossing to wildtype C57BL/6J mice.
Diet Information	LabDiet® 5K52/5K67

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.

Supply Notes

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. One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845. This strain is included in the Induced Mutant Resource Colony collection.

Control Information

	Control
	Wild-type from the colony
	000664 C57BL/6J	(approximate)
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

General Terms and Conditions

See Terms of Use

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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Ordering and Purchasing Information

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Contact Information
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Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
Technical Support Email Form

Terms of Use

Terms of Use

General Terms and Conditions

Effective September 26, 2007: License Requirements for Strains using Cre-lox Technology only apply in Canada, see Licenses for Strains using Cre-lox Technology.

For additional Licensing and Use Restrictions view the link(s) below:
- Strain(s) not available to companies or for-profit entities.

Contact information

General inquiries

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phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of MICE, products or services, The Jackson Laboratory will, at its option, provide credit or replacement for the MICE or product received or the services provided.

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MICE and biological materials are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to The Jackson Laboratory’s MICE, products and services. In addition, special terms and conditions of sale of certain MICE, products and services may be set forth separately in The Jackson Laboratory web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, products and services by The Jackson Laboratory, and by its licensees and distributors.

Acceptance of delivery of MICE, products or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on The Jackson Laboratory, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, products services by The Jackson Laboratory.