These mice carry a spontaneous mutation at the Agtpbp1 locus characterized by moderate ataxia and somewhat smaller size. Rapid degeneration of Purkinje cells begins at 15 to 18 days of age.Read More +
Mice homozygous for the Purkinje cell degeneration 3 Jackson spontaneous mutation (pcd3J) have an external and histological phenotype that is very similar to the original Purkinje cell degeneration mutation (pcd). Homozygous pcd mutant mice show a moderate ataxia beginning at 3 to 4 weeks, 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.
The Purkinje cell degeneration 3 Jackson mutation arose spontaneously on the inbred BALB/cByJ background at The Jackson Laboratory in 1996 and has been maintained on this background by breeding homozygous ovarian transplant hosts to BALB/cByJ males then intercrossing the obligate heterozygous offspring or by intercrossing progeny tested heterozgyous siblings. In 2008 this strain reached generation N9.
|Allele Name||Purkinje cell degeneration 3 Jackson|
|Allele Type||Spontaneous (Null/Knockout)|
|Gene Symbol and Name||Agtpbp1, ATP/GTP binding protein 1|
|Strain of Origin||BALB/cByJ|
|Molecular Note||This allele comprises a deletion estimated at approximately 12.2 kb, creating a splice junction between exons 5 and 9 that introduces a premature stop codon. Northern analysis of brain and testis samples showed that mRNA was reduced in abundance and size using probes derived from exons 16 to 19. mRNA was undetectable with a probe from exon 8.|
When using the Purkinje cell degeneration 3 Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #003237 in your Materials and Methods section.