Agtpbp1^pcd-2J
Spontaneous Allele Detail

Summary

• Symbol: Agtpbp1^pcd-2J
• Name: ATP/GTP binding protein 1; Purkinje cell degeneration 2 Jackson
• MGI ID: MGI:1856536
• Gene: Agtpbp1 Location: Chr13:59597348-59705184 bp, - strand
• Alliance: Agtpbp1^pcd-2J page

Mutation origin

• Strain of Origin: SM/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• Mutation details: The sequence defect underlying this mutant phenotype was identified a 7.8 kb insertion into intron 13 of the gene. The insertion contains repetitive elements similar to the T cell receptor locus. Northern analysis from cerebellum, heart and brain failed to detect any transcript using a probe from exons 16-19. However, transcript was detected in testis at reduced levels. (J:74929)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Agtpbp1 Mutation: 66 strains or lines available

References

• Original: J:74929 Fernandez-Gonzalez A, et al., Purkinje cell degeneration (pcd) phenotypes caused by mutations in the axotomy-induced gene, Nna1. Science. 2002 Mar 8;295(5561):1904-6
• All: 3 reference(s)