129S1;129S6-Agtpbp1^pcd-9J/CxJ

Stock number: 029430
Product name: Purkinje cell degeneration 9 Jackson
Research areas: Neurobiology Research

Description

The Purkinje cell degeneration 9 Jackson allele causes the same ataxia phenotype found in other alleles of this gene, but has a slightly later onset of the ataxia phenotype than that caused by the original pcd allele.

Detailed description

Mice homozygous for the Purkinje cell degeneration 9 Jackson allele generally develop slight ataxia by 5 weeks of age and severe ataxia by 6 weeks of age. This is a slightly later onset than that caused by the original Agtpbp1^pcd allele. Homozygous males have never bred.

Development

This mutation arose spontaneously in the 129S6-Batf2^tm1Kmm/J strain at The Jackson Laboratory. After two backcrosses to 129S1/SvImJ two males were found to be heterozygous for Agtbpb1^pcd-9J and devoid of the Batf2^tm1Kmm allele. These two males were used for sperm cryopreservation. Standard cryo-recovery is scheduled to use oocytes from 129S1/SvImJ.

Allele

Symbol: Agtpbp1^pcd-9J
Name: Purkinje cell degeneration 9 Jackson
MGI accession ID: MGI:5819275
Generation method: Spontaneous
Attributes: Not Specified
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: 129S6-Batf2^tm1Kmm/J
Molecular note: This spontaneous insertion of an additional adenine at position 64 of exon 11 is predicted to cause a frameshift mutation.