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| Nomenclature |
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Symbol:
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Fxntm2.1Mkn
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Name:
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frataxin;
targeted mutation 2.1, Michel Koenig
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MGI ID: |
MGI:2177177 |
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Synonyms: |
Frdadelta |
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Gene:
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Fxn
Location:
Chr19:24261453-24280605 bp, - strand
Genetic Position: Chr19,
19.39 cM, cytoband C1
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:75420
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129/Sv
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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: This allele is a derivative of Frdatm2Mkn in which loxP flanked sequences including exon 4 were deleted in the germline, leaving a single loxP site in place of the deleted sequences. (J:75420)
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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 Fxn Mutation:
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9 strains or lines available |
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| References |
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Original: |
J:75420
Puccio H et al.,
"Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits."
Nat Genet 2001 Feb;27(2):181-6
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All: |
7 reference(s)
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Analysis Tools
