These mice carry a spontaneous mutation at the Agtpbp1 locus characterized by a moderate ataxia and degeneration of Purkinje cells, retinal photoreceptor cells, and olfactory bulb mitral cells.
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | a | nonagouti |
Allele Type | Gene Symbol | Gene Name |
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Spontaneous (Not Specified) | Agtpbp1 | ATP/GTP binding protein 1 |
Mice homozygous for the Purkinje cell degeneration spontaneous mutation (pcd) show a moderate ataxia beginning at 3 to 4 weeks. Homozygous mutant mice are somewhat smaller than normal but may live a fairly normal life span. Males have abnormal sperm and are sterile. Females are fertile but are poor breeders. There is rapid degeneration of nearly all Purkinje cells beginning at 15 to 18 days, and a slower degeneration of the photoreceptor cells of the retina and mitral cells of the olfactory bulb. Degeneration of Purkinje cells is followed by partial loss of granule cells. Discrete serotonin-immunoreactive fibers, which ascend to all three layers of the cerebellar cortex in normal controls, are of much higher density and form multidirectional contours in homozygotes. In the retina of homozygous mutant mice, pycnotic nuclei begin to appear in the photoreceptor cells between 18 and 25 days, and the outer rod segments become disorganized. Degeneration of the photoreceptor cells proceeds slowly to completeness over the course of a year.
Allele Name | nonagouti |
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Allele Type | Spontaneous |
Allele Synonym(s) | |
Gene Symbol and Name | a, nonagouti |
Gene Synonym(s) | |
Strain of Origin | old mutant of the mouse fancy |
Chromosome | 2 |
General Note | Insertion of the LV30 retrotransposon without the beta4 retrovirus sequence does not cause the nonagouti phenotype. J:278039 |
Molecular Note | Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats (beta4 retroviral sequence). The host integration site is the same as for at-2Gso and Aw-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type. |
Allele Name | Purkinje cell degeneration |
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Allele Type | Spontaneous (Not Specified) |
Allele Synonym(s) | Nna1pcd; pcd; pcd1J |
Gene Symbol and Name | Agtpbp1, ATP/GTP binding protein 1 |
Gene Synonym(s) | |
Strain of Origin | C57BR/cdJ |
Chromosome | 13 |
Molecular Note | No overt mutations were noted in the coding region for this allele. Northern analysis failed to detect transcript in all tissues except for testis, where reduced levels were noted. Authors note that the mutation is likely in a regulatory region of the gene. |
When using the Purkinje cell degeneration mouse strain in a publication, please cite the originating article(s) and include JAX stock #001037 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Progeny testing required but not provided. No genotyping assay is available for these recessive cryo-recovered animals of undefined genotype |
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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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