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 +
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 Synonym(s)||nonagouti; a|
|Gene Symbol and Name||a, nonagouti|
|Gene Synonym(s)||agouti signal protein; As; ASP; As; agouti; agouti suppressor; AGTI; SHEP9; AGSW; AGTIL|
|Strain of Origin||old mutant of the mouse fancy|
|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. 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|
|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|
|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 #001037 in your Materials and Methods section.
|No genotyping assay is available for this recessive mutation. The customer will receive cryorecovered animals of undefined genotype.|
A molecular assay to genotype this strain is not available. We will fulfill your order by providing at least two untested males and two untested females (two pairs). The total number, sex, and genotypes will vary, although typically 8 or more mice are provided. Untested animals typically are available to ship between 10 and 14 weeks from the date of your order. If the first recovery attempt is unsuccessful, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. Progeny testing may be required – If recovered animals do not display a phenotype, progeny testing will be required. This testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.
Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation.
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