Agtpbp1pcd-5J homozygotes are visibly classified by weaning age and live through adulthood. They present the ataxic gait and severe deficiency of Purkinje cells characteristic of other Agtpbp1 alleles. See initial characteriztaion.
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Agtpbp1 | ATP/GTP binding protein 1 |
Agtpbp1pcd-5J homozygotes are visibly classified by weaning age and live through adulthood. They present the ataxic gait and severe deficiency of Purkinje cells characteristic of other Agtpbp1 alleles. See initial characteriztaion.
The pcd-5J mutation of Agtpbp1 arose spontaneously in 2000 in the DBA/2J production colony at The Jackson Laboratory, which was then at generation F205. This strain has been maintained primarily via sibling breeding with some use of ovarian transplanted hosts as necessary. In 2003 males at generation F205+7 were used for cryopreservatioin of sperm and also for the generation of embryos for cryopreservation through in vitro fertilization with eggs from C57BL/6J females.
Allele Name | Purkinje cell degeneration 5 Jackson |
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Allele Type | Spontaneous |
Allele Synonym(s) | Nna1pcd-5J; pcd5J |
Gene Symbol and Name | Agtpbp1, ATP/GTP binding protein 1 |
Gene Synonym(s) | |
Strain of Origin | DBA/2J |
Chromosome | 13 |
General Note | This mouse mutant was shown to be an allele of pcd through complementation testing with Agtpbp1pcd-3J. |
Molecular Note | A GAC was inserted at amino acid 775, adding an additional aspartic acid to the protein. Northern blot demonstrated comparable expression to that of wild-type mice, indicating normal RNA expression. However, Western blot analysis showed that protein level is dramatically reduced. |
Homozygous males do not breed, but homozygous females sometimes do making the homozygote x heterozygote breeding scheme an option for colony maintenance.
When using the Purkinje cell degeneration 5 Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #004518 in your Materials and Methods section.
Facility Barrier Level Descriptions
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Heterozygous or Wild-type for Agtpbp1<pcd-5J> |
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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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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