This strain, which combines the n-Tr20m1J and Gtpbp2nmf205 mutations, has strong ribosomal stalling in the brain and is valuable for characterizing molecular interactions and pathways involved in protein translation.
The Jackson Laboratory cannot guarantee that cryorecovery of strains from the discontinued NIH-funded Neuroscience Mutagenesis Facility (NMF) will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.
Read More +Genetic Background | Generation |
---|---|
|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Chemically induced (ENU) (Null/Knockout) | Gtpbp2 | GTP binding protein 2 |
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Spontaneous (Not Specified) | n-TRtct5 | nuclear encoded tRNA arginine 5 (anticodon TCT) |
The animals exhibit an unsteady gait, with 'high' hind limbs (walking on hind toes), which can be observed at approximately 4 weeks of age (mean 4.6+/-0.7; n=21, but as early as 3 weeks of age); the impairment progresses over time, i.e. hind limbs become weaker, and the animals show a staggering gait. Because of phenotypic similarities to nmf291, allele tests between nmf205 and nmf291 were performed but did not produce any affected mice.
Standard pathology work-up on four mutants (38 to 51 days of age) revealed loss of cerebellar granule cells in all four animals and cortical laminar necrosis in three animals. Subsequent characterization by Ishimura et al, 2014, revealed that the nmf205 mutation in Gtpbp2 requires the presence of the n-Tr20m1J point mutation, a strain characteristic of C57BL/6J and C57BL/6JEiJ, in order for the neurodegenerative phenotype to present. The phenotype results from ribosomal stalling at AGA codons, which requires the presence of both mutations for full phenotypic expression. The phenotypic assessment was further characterized and found to include neurodegeneration in the retina including photoreceptor degeneration, and degeneration of amacrine, horizontal, and ganglion cells. Mice die by 8 to 9 weeks of age with progressive neuronal apoptosis. Apoptotic loss is found between 3 and 4 weeks of age the inner granule layer, and between 5 and 8 weeks of age also in the granule cells of the dentate gyrus, CA2 pyramidal neurons, and layer IV cortical neurons.
This phenotypic deviant was generated by ethylnitrosourea (ENU) mutagenesis in C57BL/6J males (Stock No. 000664), in the Neuroscience Mutagenesis facility at The Jackson Laboratory. Mutagenized males were crossed to C57BL/6J females; G3 descendants of the mutagenized males were selected for neurological impairment. In 2004 sperm was cryopreserved from homozygous males then at generation N4F1.
Allele Name | neuroscience mutagenesis facility, 205 |
---|---|
Allele Type | Chemically induced (ENU) (Null/Knockout) |
Allele Synonym(s) | |
Gene Symbol and Name | Gtpbp2, GTP binding protein 2 |
Gene Synonym(s) | |
Strain of Origin | C57BL/6J |
Chromosome | 17 |
Molecular Note | This ENU-induced T to C point mutation in the consensus splice donor site of intron 6 results in misspliced mRNAs with premature stop codons. Western blot analysis failed to detect this protein in cerebellar extracts from homozygotes. |
Allele Name | mutation 1, Jackson |
---|---|
Allele Type | Spontaneous (Not Specified) |
Allele Synonym(s) | n-Tr20C57BL/6J; n-TRtct5rs4644711-T; rs46447118 |
Gene Symbol and Name | n-TRtct5, nuclear encoded tRNA arginine 5 (anticodon TCT) |
Gene Synonym(s) | |
Strain of Origin | C57BL/6J |
Chromosome | 1 |
Molecular Note | This C-to-T transition, the T variant of SNP rs46447118, found in C57BL/6J and C57BL/6JEiJ but not any of the other 18 inbred strains tested, is in nucleotide 50 in the stem of the T loop and impairs maturation, leading to accumulation of a 105 nucleotide pre-tRNA band with leader and trailer sequences instead of the usual 115 nucleotide pre-tRNA, and also diminishes aminoacylation of this isodecoder. |
When using the C57BL/6J-Gtpbp2nmf205/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #004823 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Unknown for nmf205 |
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.
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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
What information were you hoping to find through your search?
How easy was it to find what you were looking for?
We may wish to follow up with you. Enter your email if you are happy for us to connect and reachout to you with more questions.
Please Enter a Valid Email Address
Thank you for sharing your feedback! We are working on improving the JAX Mice search. Come back soon for exciting changes.