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Spontaneous Allele Detail
Symbol: Agtpbp1pcd-5J
Name: ATP/GTP binding protein 1; Purkinje cell degeneration 5 Jackson
MGI ID: MGI:2388491
Synonyms: Nna1pcd-5J, pcd5J
Gene: Agtpbp1  Location: Chr13:59597348-59705184 bp, - strand  
Purkinje cell degeneration in Agtpbp1pcd-5J/Agtpbp1pcd-5J mice

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

Strain of Origin:  DBA/2J
Allele Type:    Spontaneous
Mutation:    Insertion
Mutation detailsA 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
View phenotypes and curated references for all genotypes (concatenated display).
In Structures Affected by this Mutation: 5 anatomical structures
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:  48 strains or lines available
This mouse mutant was shown to be an allele of pcd through complementation testing with Agtpbp1pcd-3J.
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:  6 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.17
The Jackson Laboratory