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| Nomenclature |
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Symbol:
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Gantm1Yany
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Name:
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giant axonal neuropathy;
targeted mutation 1, Yanmin Yang
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MGI ID: |
MGI:3611911 |
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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:103926
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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: Exons 3 and 4 and part of exon 5 were replaced with a neomycin resistance gene. RT-PCR and immunoblot failed to detect transcript and protein in mutant brains and spinal cords. (J:108239)
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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:103926
Wang W et al.,
"Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway."
Curr Biol 2005 Nov 22;15(22):2050-5
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All: |
2 reference(s)
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Analysis Tools
