Mice homozygous for the Purkinje cell degeneration spontaneous mutation (Agtpbp1pcd) 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.
The Agtpbp1pcd mutation, originally designated pcd, occurred in the C57BR/cdJ strain at The Jackson Laboratory. Homozygous females were initially mated to C3H/HeJ males and the F1-progeny were intercrossed to produce homozygous F2 females. These females were then crossed back to C57BR/cdJ males and the Agtpbp1pcd mutation was maintained thereafter by brother-sister matings until backcrossed to the C57BL/6J strain.
|Allele Name||Purkinje cell degeneration|
|Allele Type||Spontaneous (Not Specified)|
|Allele Synonym(s)||Purkinje cell degeneration; Agtpbp1pcd|
|Gene Symbol and Name||Agtpbp1, ATP/GTP binding protein 1|
|Gene Synonym(s)||4930445M19Rik; 5730402G09Rik; pcd; 2900054O13Rik; NNA1; 2900054O13Rik; 2310001G17Rik; expressed sequence BB114605; RIKEN cDNA 2310001G17 gene; RIKEN cDNA 1700020N17 gene; RIKEN cDNA 4930445M19 gene; RIKEN cDNA 2900054O13 gene; 1700020N17Rik; 5730402G09Rik; 4930445M19Rik; BB114605; 2310001G17Rik; Purkinje cell degeneration; nmf243; RIKEN cDNA 5730402G09 gene; 1700020N17Rik; CCP1; Nna1; Ccp1; CONDCA; ataxia and male sterility; atms; atms|
|Strain of Origin||C57BR/cdJ|
|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 #000537 in your Materials and Methods section.
|Progeny testing required but not provided. No genotyping assay is available for these recessive cryo-recovered animals of undefined genotype|
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