Strain Name:

B6.129S1-Nf1tm1Cbr/J

Stock Number:

007923

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Availability:

Cryopreserved - Ready for recovery

Use Restrictions Apply, see Terms of Use
Mice homozygous for this targeted allele (Nf123a-/-) lack the alternatively spliced exon 23a (which modifies the GTPase-activating protein (GAP) domain of Nf1). These mutant mice may be useful for neurological studies of Neurofibromatosis Type I, growth, differentiation, and learning and memory.

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

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
GenerationN8+F4pN1
Generation Definitions
 
Donating Investigator Alcino J. Silva,   University of California, Los Angeles

Description
Mice homozygous for this targeted allele (Nf123a-/-) lack the alternatively spliced exon 23a (which modifies the GTPase-activating protein (GAP) domain of Nf1), and are viable and fertile. Protein and mRNA isolated from homozygous brain tissue shows normal type I (exon 1-21 containing) neurofibromin isoform but absence of the alternatively spliced, exon 23a-containing type II neurofibromin isoform (which has a greater affinity for Ras but lower GAP activity than the type I isoform). Homozygotes have no reported increase in tumor predisposition, but show specific learning impairments in contextual discrimination, spatial learning, and coordination. These Nf123a-/- mutant mice may be useful for neurological studies of Neurofibromatosis Type I, growth, differentiation, and learning and memory.

Development
A targeting vector was designed to replace 300 bp (including exon 23a) of the targeted gene with a neo cassette. The construct was electroporated into 129S1/Sv-derived CJ7 embryonic stem (ES) cells. Correctly targeted ES cells were injected into blastocysts. The resulting chimeric males were bred with C57BL/6J females. These resulting Nf123a- mutant mice were then backcrossed to C57BL/6NTac for at least seven generations prior to arrival at The Jackson Laboratory.

Control Information

  Control
   000664 C57BL/6J (approximate)
   005304 C57BL/6NJ (approximate)
 
  Considerations for Choosing Controls

Related Strains

View Strains carrying other alleles of Nf1     (6 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).
Neurofibromatosis, Type I; NF1
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Juvenile Myelomonocytic Leukemia; JMML   (NF1)
Neurofibromatosis, Familial Spinal   (NF1)
Neurofibromatosis-Noonan Syndrome; NFNS   (NF1)
Watson Syndrome   (NF1)
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.

Nf1tm1Cbr/Nf1+

        involves: 129S1/Sv * C57BL/6
  • tumorigenesis
  • *normal* tumorigenesis
    • mice do not have an increase in predisposition for tumor formation   (MGI Ref ID J:68489)

Nf1tm1Cbr/Nf1tm1Cbr

        involves: 129S1/Sv * C57BL/6
  • behavior/neurological phenotype
  • abnormal discrimination learning
    • mice exhibit impaired contextual discrimination; during first two days of training, mutants do not discriminate between a chamber in which they receive a mild shock and a chamber in which they do not, however after 3 days of training, begin to discriminate between the chambers   (MGI Ref ID J:68489)
  • abnormal spatial learning
    • in a probe trial, mutants search randomly rather than selectively, and spend significantly less time searching for the platform in the training quadrant than wild-type   (MGI Ref ID J:68489)
    • additional training alleviates the learning deficits   (MGI Ref ID J:68489)
  • impaired coordination
    • mice fall off a rotating rod sooner than wild-type, however swimming speed, ambulance, exploratory behavior, and muscular strength are normal   (MGI Ref ID J:68489)
  • tumorigenesis
  • *normal* tumorigenesis
    • mice do not have an increase in predisposition for tumor formation   (MGI Ref ID J:68489)
  • nervous system phenotype
  • *normal* nervous system phenotype
    • mice do not exhibit gross or microscopic abnormalities in the brain, including no astrogliosis   (MGI Ref ID J:68489)
View Research Applications

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

Neurobiology Research
Behavioral and Learning Defects

Research Tools
Neurobiology Research

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Nf1tm1Cbr
Allele Name targeted mutation 1, Camilyn Brannan
Allele Type Targeted (Null/Knockout)
Common Name(s) Nf123a-;
Mutation Made By Alcino Silva,   University of California, Los Angeles
Strain of Origin129S1/Sv-Oca2<+> Tyr<+> Kitl<+>
ES Cell Line NameCJ7
ES Cell Line Strain129S1/Sv-Oca2<+> Tyr<+> Kitl<+>
Gene Symbol and Name Nf1, neurofibromatosis 1
Chromosome 11
Gene Common Name(s) AW494271; NFNS; Nf-1; VRNF; WSS; expressed sequence AW494271; neurofibromin;
Molecular Note A neomycin resistance cassette replaced 300 bp of genomic DNA including exon 23a. RT-PCR analysis of brain detected neurofibromin type I but not the type II isoform in homozygous mutant mice. Western blot analysis detected the type I but not the type II neurofibronin in brain of homozygous mutant mice. Immunohistochemical analysis of brain did not detect type II neurofibromin isoform in homozygous mutant mice. [MGI Ref ID J:68489]

Genotyping

Genotyping Information

Genotyping Protocols

Nf1tm1Cbr, Standard PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Costa RM; Yang T; Huynh DP; Pulst SM; Viskochil DH; Silva AJ; Brannan CI. 2001. Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1. Nat Genet 27(4):399-405. [PubMed: 11279521]  [MGI Ref ID J:68489]

Additional References

Nf1tm1Cbr related

Devon RS. 2001. Clin Genet 60:99-103.  [MGI Ref ID J:71298]

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, homozygous mice 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
   000664 C57BL/6J (approximate)
   005304 C57BL/6NJ (approximate)
 
  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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