Description

Strain Information

Type Mutant Stock; Mutant Strain; Transgenic; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Mating System +/+ sibling x Hemizygote         (Female x Male)   16-APR-08 Species laboratory mouse Generation F?+F10 (29-JUN-11) Generation Definitions   Donating Investigator Andrea Riccio,   Seconda Universita di Napoli

Description
Hemizygous offspring from wild type mothers and transgenic fathers are viable, fertile, and normal in size. The imprinted methylation pattern on this transgene is dependent on maternal or paternal transgene inheritance, and is faithful to normal patterns with the following exceptions; defective methylation of Tssc4 and improper imprinting of Tssc4 and Ascl2. Fetal growth restriction is observed following maternal, but not paternal, transmission of the transgene. This phenotype is a characteristic of maternal duplication of chromosome 11p15.5. In addition, this mouse may also be useful in studying Beckwith-Wiedemann syndrome, imprinting/methylation mechanisms, and differentially methylated regions.

Development
The 800 kb yeast artificial chromosome (YAC) W408A5 containing C57BL/6 mouse genomic sequence from distal chromosome 7 (extending from the Cars to the Th gene and including imprinting center 2 (IC2), Cdkn1c (P57), and Kcnq1) was modified to by addition of two copies of a neomycin-selection cassette. This construct was introduced into 129/Sv-derived embryonic stem (ES) cells by yeast spheroplast fusion. Correctly targeted ES cells containing a full length and single copy YAC were injected in C57BL/6 blastocysts which were then implanted into pseudopregnant foster mothers. Chimeric founder line L1952 males were backcrossed 5 generations to SD7 female before arrival at The Jackson Laboratory. SD7 mice (M. spretus distal chromosome 7 on C57BL/6 M. Domesticus background) were used to provide a source of polymorphisms to distinguish expression and methylation of all the genes present on the transgene.

Control Information

	Control
	Noncarrier
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Cdkn1c

003336

B6.129S7-Cdkn1ctm1Sje/J

View Strains carrying other alleles of Cdkn1c     (1 strain)

Strains carrying other alleles of Kcnq1

004407	C3H/HeJCrl-Kcnq1vtg-2J/J
005748	C57BL/6J-Kcnq1vtg-3J/J

View Strains carrying other alleles of Kcnq1     (2 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

Beckwith-Wiedemann Syndrome; BWS

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Tg(YACW408A5)1952Ricc/0

        involves: 129/Sv * SD7

• growth/size phenotype
• fetal growth retardation
  • at birth, mice with maternal transmission are ~18% growth-retarded compared to wild-type littermates; mice with paternal transmission are not different from wild-type mice   (MGI Ref ID J:96366)
  • two active maternal alleles of maternally expressed genes in the IC2 region results in prenatal growth retardation   (MGI Ref ID J:96366)
• cellular phenotype
• abnormal imprinting
  • prenatal growth retardation is observed with maternal inheritance of the transgene and resulting expression of 2 copies of maternally expressed imprinting center 2 (IC2) genes (1 endogenous, 1 trangenic)   (MGI Ref ID J:96366)
• homeostasis/metabolism phenotype
• abnormal imprinting
  • prenatal growth retardation is observed with maternal inheritance of the transgene and resulting expression of 2 copies of maternally expressed imprinting center 2 (IC2) genes (1 endogenous, 1 trangenic)   (MGI Ref ID J:96366)

View Research Applications

Research Applications

This mouse can be used to support research in many areas including:

Developmental Biology Research
Growth Defects
Internal/Organ Defects

Mouse/Human Gene Homologs

Research Tools
Developmental Biology Research

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Tg(YACW408A5)1952Ricc
Allele Name		transgene insertion 1952, Andrea Riccio
Allele Type		Transgenic (random, expressed)
Common Name(s)		YAC W408A5;
Mutation Made By		Andrea Riccio,   Seconda Universita di Napoli
Strain of Origin		129/Sv
Expressed Gene		Slc22a18, solute carrier family 22 (organic cation transporter), member 18, mouse, laboratory
Expressed Gene		Kcnq1, potassium voltage-gated channel, subfamily Q, member 1, mouse, laboratory
Expressed Gene		Cdkn1c, cyclin-dependent kinase inhibitor 1C (P57), mouse, laboratory
Expressed Gene		Phlda2, pleckstrin homology-like domain, family A, member 2, mouse, laboratory
Promoter		Cdkn1c, cyclin-dependent kinase inhibitor 1C (P57), mouse, laboratory
Promoter		Slc22a18, solute carrier family 22 (organic cation transporter), member 18, mouse, laboratory
Promoter		Phlda2, pleckstrin homology-like domain, family A, member 2, mouse, laboratory
Promoter		Kcnq1, potassium voltage-gated channel, subfamily Q, member 1, mouse, laboratory
Molecular Note		An 800kb yeast artificial chromosome (YAC) designated W408A5, which contained C57BL/6 distal chromosome 7 sequence from the Cars to Th gene, and including imprinting center(IC2 which contains Cdkn1c (P57) and Kcnq1) and is syntenic to human chromosome 11p15.5, was modified by addition of 2 copies of the Neo-selection cassette. The construct was introduced into 129/Sv ES cells by yeast spheroplast fusion.After maternal transmission of the transgene, most maternally expressed genes of the IC2 region (Phdla2, Slc22a18, Cdkn1c and Kcnq1) show 30-60% increased expression in the placenta relative to wild-type and equivalent or slightly reduced expression after paternal transmission. With paternal transmission, paternally expressed gene Kcnq1ot1 shows 2-fold increased expression over wild-type or after maternal transmission. Ascl2 expression (maternally expressed) is increased 2-fold after maternal or paternal transmission, while Tssc4 expression is increased 2-fold after maternal and by ~33% after paternal transmission. Imprinting of these 2 genes is not reproduced by the transgene. Expression of Cdkn1c and Kcnq1ot1 in the embryo is comparable to the placental expression [MGI Ref ID J:66461] [MGI Ref ID J:96366]

Genotyping

Genotyping Information

Genotyping Protocols

Generic Neo Melt Curve Analysis, Robotic MCA
Generic Neo Melt Curve Analysis, Melt Curve Analysis
Generic Neo Melt Curve Analysis, Melt Curve Analysis
Generic Neo Melt Curve Analysis, Robotic MCA
Tg(YACW408A5)1952Ricc, Restriction Enzyme Digest

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Cerrato F; Sparago A; Di Matteo I; Zou X; Dean W; Sasaki H; Smith P; Genesio R; Bruggemann M; Reik W; Riccio A. 2005. The two-domain hypothesis in Beckwith-Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster. Hum Mol Genet 14(4):503-11. [PubMed: 15640248]  [MGI Ref ID J:96366]

Additional References

Tg(YACW408A5)1952Ricc related

Kato R; Shirohzu H; Yokomine T; Mizuno S; Mukai T; Sasaki H. 1999. Sequence-ready 1-Mb YAC, BAC and cosmid contigs covering the distal imprinted region of mouse chromosome 7. DNA Res 6(6):401-5. [PubMed: 10691133]  [MGI Ref ID J:66461]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           AX11

Colony Maintenance

Breeding & Husbandry	When maintaining a live colony, transgenic negative female and transgenic positive male siblings are bred. Fetal growth deficiency is observed following maternal transmission of the transgene.
Mating System	+/+ sibling x Hemizygote         (Female x Male)   16-APR-08
Diet Information	LabDiet® 5K54

Purchasing information

Pricing, Supply Level & Notes, Controls

 

This strain is currently On Hold.
To register your interest in this strain go to the Strain Interest Form.

To request more information use the Customer Support Contact Form or call 1.800.422.6423 or 207.288.5845

View All Strains Awaiting Transfer from the Donor and On Hold

General Supply Notes

• This strain is included in the Induced Mutant Resource Colony collection.
• Genomic DNA is available for this strain from the Mouse DNA Resource.
• 10/19/11: This strain is on hold for 18 weeks due to breeding difficulties. Orders will not be filled during this time.

Control Information

	Control
	Noncarrier
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

See Terms of Use tab for General Terms and Conditions

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 Information
JAX^® Mice
Surgical and Preconditioning Services
JAX^® Services
Customer Services and Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form

Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

Contracts Administration

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

JAX^® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (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. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON'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, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE and PRODUCTS 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 JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON 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 JACKSON, 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 JACKSON, 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 or services by JACKSON.