Agtpbp1^pcd-5J
Spontaneous Allele Detail

Summary

• Symbol: Agtpbp1^pcd-5J
• Name: ATP/GTP binding protein 1; Purkinje cell degeneration 5 Jackson
• MGI ID: MGI:2388491
• Synonyms: Nna1^pcd-5J, pcd^5J
• Gene: Agtpbp1 Location: Chr13:59597348-59705184 bp, - strand
• Alliance: Agtpbp1^pcd-5J page

Purkinje cell degeneration in Agtpbp1^pcd-5J/Agtpbp1^pcd-5J mice

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: DBA/2J

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• Mutation details: 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. (J:105316)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Agtpbp1 Mutation: 66 strains or lines available

Notes

This mouse mutant was shown to be an allele of pcd through complementation testing with Agtpbp1^pcd-3J.

References

• Original: J:83266 Cook SA, et al., A new allele, pcd-5J, of the Agtpbp1 gene. Mouse Mutant Resources Web Site, The Jackson Laboratory, Bar Harbor, Maine. MGI Direct Data Submission. 2003
• All: 7 reference(s)