Agtpbp1^pcd-3J
Spontaneous Allele Detail

Summary

• Symbol: Agtpbp1^pcd-3J
• Name: ATP/GTP binding protein 1; Purkinje cell degeneration 3 Jackson
• MGI ID: MGI:1857523
• Synonyms: Ccp1^-, CCP1^-
• Gene: Agtpbp1 Location: Chr13:59597348-59705184 bp, - strand
• Alliance: Agtpbp1^pcd-3J page

Mutation origin

• Strain of Origin: BALB/cByJ

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: This allele comprises a deletion estimated at approximately 12.2 kb, creating a splice junction between exons 5 and 9 that introduces a premature stop codon. Northern analysis of brain and testis samples showed that mRNA was reduced in abundance and size using probes derived from exons 16 to 19. mRNA was undetectable with a probe from exon 8. (J:74929)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:	9 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 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: 23 reference(s)