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| Nomenclature |
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Symbol:
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Gantm1Jpj
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Name:
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giant axonal neuropathy;
targeted mutation 1, Jean-Pierre Julien
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MGI ID: |
MGI:3812434 |
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Synonyms: |
Gandeltaex1 |
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Gene:
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Gan
Location:
Chr8:117158137-117205834 bp, + strand
Genetic Position: Chr8,
63.71 cM
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:140136
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: The 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Gan Mutation:
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6 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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