DBA/2J-Agtpbp1^pcd-5J/GrsrJ

Stock number: 004518
Product name: Purkinje cell degeneration 5 Jackson
Research areas: Neurobiology Research

Detailed description

Agtpbp1^pcd-5J homozygotes are visibly classified by weaning age and live through adulthood. They present the ataxic gait and severe deficiency of Purkinje cells characteristic of other Agtpbp1 alleles. See initial characteriztaion.

Development

The pcd-5J mutation of Agtpbp1 arose spontaneously in 2000 in the DBA/2J production colony at The Jackson Laboratory, which was then at generation F205. This strain has been maintained primarily via sibling breeding with some use of ovarian transplanted hosts as necessary. In 2003 males at generation F205+7 were used for cryopreservatioin of sperm and also for the generation of embryos for cryopreservation through in vitro fertilization with eggs from C57BL/6J females.

Allele

Symbol: Agtpbp1^pcd-5J
Name: Purkinje cell degeneration 5 Jackson
MGI accession ID: MGI:2388491
Generation method: Spontaneous
Synonyms: Nna1^pcd-5J; pcd^5J
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: DBA/2J
Molecular note: A GAC was inserted at amino acid 775, adding an additional aspartic acid to the protein. Northern blot demonstrated comparable expression to that of wild-type mice, indicating normal RNA expression. However, Western blot analysis showed that protein level is dramatically reduced.
General note: This mouse mutant was shown to be an allele of pcd through complementation testing with Agtpbp1^pcd-3J.