B6C3Fe a/a-Agtpbp1^pcd/J

Stock number: 001037
Product name: Purkinje cell degeneration
Research areas: Neurobiology Research, Sensorineural Research

Description

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.

Detailed description

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

Symbol: a
Name: nonagouti
MGI accession ID: MGI:1855937
Generation method: Spontaneous
Marker symbol: a
Marker name: nonagouti
Marker synonyms: agouti; agouti signal protein; AGSW; AGTI; AGTIL; As; ASP; SHEP9
Chromosome: 2
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 (beta4 retroviral sequence). The host integration site is the same as for a^t-2Gso and A^w-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.
General note: Insertion of the LV30 retrotransposon without the beta4 retrovirus sequence does not cause the nonagouti phenotype. J:278039

Allele

Symbol: Agtpbp1^pcd
Name: Purkinje cell degeneration
MGI accession ID: MGI:1856535
Generation method: Spontaneous
Attributes: Not Specified
Synonyms: Nna1^pcd; pcd; pcd^1J
Marker symbol: Agtpbp1
Marker name: ATP/GTP binding protein 1
Marker synonyms: 1700020N17Rik; 2310001G17Rik; 2900054O13Rik; 4930445M19Rik; 5730402G09Rik; atms; CCP1; CONDCA; nmf243; Nna1
Chromosome: 13
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.