Strain Name:

FVB.129-Fmr1tm1Rbd/J

Stock Number:

008909

Order this mouse

Availability:

Cryopreserved - Ready for recovery

Use Restrictions Apply, see Terms of Use
These mice recapitulate the phenotype of null Fmr1 (fragile X mental retardation syndrome 1 homolog) allele mice in terms of increased macroorchidism with age, protein synthesis-dependent metabotropic glutamate receptor (mGluR)-dependent long-term depression (LTD) at CA1 hippocampal neurons, and multiple behavioral assays. There is a significant incidence of audiogenic seizures in adulthood. Protein levels are decreased to 15-30% that of wildtype at P14, but normalize somewhat in adulthood. This strain may be useful in studies of Fragile X Mental Retardation Syndrome.

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 FVB.129-Fmr1tm1(I304N)Rbd/J    (Changed: 14-JAN-10 )
Type Congenic; Targeted Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Specieslaboratory mouse
 
Donating InvestigatorDr. Robert B Darnell,   Rockefeller University, HHMI

Description
These mice recapitulate the phenotype of null allele mice in terms of increased macroorchidism with age, protein synthesis-dependent metabotropic glutamate receptor (mGluR)-dependent long-term depression (LTD) at CA1 hippocampal neurons, and multiple behavioral assays. There is a significant incidence of audiogenic seizures in adulthood. Their mRNA is of correct size and is expressed at correct levels, but protein levels are decreased to 15-30% that of wildtype, most pronounced at postnatal day 14 (P14) and normalizing somewhat in adulthood. This strain may be useful in studies of Fragile X Mental Retardation Syndrome.

Development
PCR mutagenesis was used to create an I304N mutation in exon 10, changing sequence CTG(Leu) ATT(Ile) CAA(Gln) to CTT(Leu) AAC(Asn) CAG(Gln). A loxP-Auto-Cre-NeoR-loxP (ACNF) cassette was inserted in intron 10. The targeting vector was introduced to 129-derived embryonic stem (ES) cells. The loxP-flanked segment was self-excised. This strain was backcrossed to FVB for more than 10 generations by the donating laboratory.

Control Information

  Control
   Wild-type from the colony
   001800 FVB/NJ
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Fmr1tm1Rbd allele
010504   B6.129-Fmr1tm1Rbd/J
View Strains carrying   Fmr1tm1Rbd     (1 strain)

Strains carrying other alleles of Fmr1
003025   B6.129P2-Fmr1tm1Cgr/J
003024   FVB.129P2(B6)-Fmr1tm1Cgr/J
004624   FVB.129P2-Pde6b+ Tyrc-ch Fmr1tm1Cgr/J
002700   FVB;129P-Fmr1tm1Cgr/J
View Strains carrying other alleles of Fmr1     (4 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Fragile X Mental Retardation Syndrome
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Fragile X Tremor/Ataxia Syndrome; FXTAS   (FMR1)
Premature Ovarian Failure 1; POF1   (FMR1)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Fmr1tm1Rbd/Y

        FVB.129-Fmr1tm1Rbd
  • endocrine/exocrine gland phenotype
  • increased testis weight
    • increased testis weight (12-28%)   (MGI Ref ID J:155593)
    • the most pronounced differences are evident in older animals (>5months)   (MGI Ref ID J:155593)
    • no significant difference in body weights   (MGI Ref ID J:155593)
  • reproductive system phenotype
  • increased testis weight
    • increased testis weight (12-28%)   (MGI Ref ID J:155593)
    • the most pronounced differences are evident in older animals (>5months)   (MGI Ref ID J:155593)
    • no significant difference in body weights   (MGI Ref ID J:155593)

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

Fmr1tm1Rbd/Y

        B6.129-Fmr1tm1Rbd
  • behavior/neurological phenotype
  • audiogenic seizures
    • increased audiogenic seizure susceptibility   (MGI Ref ID J:155593)
    • 18% of the 2-3 month old mice have audiogenic seizures, versus none in wild-type littermates   (MGI Ref ID J:155593)
  • decreased anxiety-related response
    • travel a greater proportion in the center of the open field   (MGI Ref ID J:155593)
    • a greater number of light-dark transitions than their wild type littermates   (MGI Ref ID J:155593)
    • no significant difference for the total time spent in the dark   (MGI Ref ID J:155593)
  • decreased startle reflex
    • lower acoustic startle compared to their wild type littermates   (MGI Ref ID J:155593)
    • no significant difference in prepulse inhibition (PPI) responses   (MGI Ref ID J:155593)
  • hyperactivity
    • increased locomotor activity   (MGI Ref ID J:155593)
    • travel a greater total distance in the open field compared with their wild type littermates   (MGI Ref ID J:155593)
  • increased exploration in new environment
    • increased exploratory behavior   (MGI Ref ID J:155593)
    • travel a greater total distance in the open field compared with their wild type littermates   (MGI Ref ID J:155593)
  • increased stereotypic behavior
    • increased repetitive/perseverative responses   (MGI Ref ID J:155593)
    • bury significantly more marbles than their wild type littermates   (MGI Ref ID J:155593)
  • increased thermal nociceptive threshold
    • greater latency to hindlimb response in hotplate than wild type mice (p=0.076)   (MGI Ref ID J:155593)
  • nervous system phenotype
  • abnormal long term depression
    • metabotropic glutamate receptor-dependent long term depression (mGluR-LTD) in hippocampal CA1 neurons is enhanced in the presence of anisomycin   (MGI Ref ID J:155593)
  • audiogenic seizures
    • increased audiogenic seizure susceptibility   (MGI Ref ID J:155593)
    • 18% of the 2-3 month old mice have audiogenic seizures, versus none in wild-type littermates   (MGI Ref ID J:155593)
  • integument phenotype
  • increased thermal nociceptive threshold
    • greater latency to hindlimb response in hotplate than wild type mice (p=0.076)   (MGI Ref ID J:155593)
View Research Applications

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

Neurobiology Research
Behavioral and Learning Defects
Epilepsy
Fragile X Mental Retardation Syndrome

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Fmr1tm1Rbd
Allele Name targeted mutation 1, Robert B Darnell
Allele Type Targeted
Common Name(s) Fmr1I304N; Fmr1tm1(I304N)Drnl; Fmr1tm1(I304N)Rbd;
Mutation Made ByDr. Robert Darnell,   Rockefeller University, HHMI
Strain of Origin129
Promoter Fmr1, fragile X mental retardation syndrome 1, mouse, laboratory
Molecular Note PCR mutagenesis was used to create an I304N mutation in exon 10, changing sequence CTG(Leu) ATT(Ile) CAA(Gln) to CTT(Leu) AAC(Asn) CAG(Gln). A loxP-Auto-Cre-NeoR-loxP (ACNF) cassette was inserted in intron 10. Northern blot and quantitative RT-PCR analysis showed that the mutant mRNA was expressed at wild type level and was of the expected size in both brain and testes, but Western blot showed that protein levels were decreased to 13-30% that of wild type. Sequencing of RT-PCR products confirmed the presence of the mutation. [MGI Ref ID J:155593]

Genotyping

Genotyping Information

Genotyping Protocols

Fmr1tm1Rbd, Standard PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Zang JB; Nosyreva ED; Spencer CM; Volk LJ; Musunuru K; Zhong R; Stone EF; Yuva-Paylor LA; Huber KM; Paylor R; Darnell JC; Darnell RB. 2009. A mouse model of the human Fragile X syndrome I304N mutation. PLoS Genet 5(12):e1000758. [PubMed: 20011099]  [MGI Ref ID J:155593]

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 maintained as a live colony, heterozygotes may be bred.

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* $2140.00
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.

Standard Supply

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

Supply Notes

  • 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* $2782.00
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.

Standard Supply

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

Supply Notes

  • 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
   001800 FVB/NJ
 
  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


For Licensing and Use Restrictions view the link(s) below:
- Use of MICE by companies or for-profit entities requires a license prior to shipping.

Contact information

General inquiries regarding Terms of Use

Contracts Administration

phone:207-288-6470

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.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

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.


(6.6)