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Gantm1Jpj
Targeted Allele Detail
Nomenclature
Symbol: Gantm1Jpj
Name: giant axonal neuropathy; targeted mutation 1, Jean-Pierre Julien
MGI ID: MGI:3812434
Synonyms: Gandeltaex1
Gene: Gan  Location: Chr8:117157981-117205834 bp, + strand  Genetic Position: Chr8, 63.71 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:140136
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThe 0.9 kb AcsI-XmaI fragment containing exon 1 and part of the upstream promoter was replaced with a neo cassette. Gene inactivation was confirmed by a lack of signal in both RT-PCR and immunoblot analysis of brain and spinal cord extracts. This is a null allele. (J:140136)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 45 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: 0 strains available      Cell Lines: 0 lines available
Carrying any Gan Mutation:  15 strains or lines available
References
Original:  J:140136 Dequen F, et al., Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1. J Neurochem. 2008 Oct;107(1):253-64
All:  2 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
02/16/2021
MGI 6.16
The Jackson Laboratory