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Agtpbp1pcd-3J
Spontaneous Allele Detail
Nomenclature
Symbol: Agtpbp1pcd-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  
Mutation
origin
Strain of Origin:  BALB/cByJ
Mutation
description
Allele Type:    Spontaneous (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsThis 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 3 assay results
In Structures Affected by this Mutation: 3 anatomical structures
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:  48 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:  22 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
11/30/2021
MGI 6.17
The Jackson Laboratory