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Fxntm2.1Mkn
Targeted Allele Detail
Nomenclature
Symbol: Fxntm2.1Mkn
Name: frataxin; targeted mutation 2.1, Michel Koenig
MGI ID: MGI:2177177
Synonyms: Frdadelta
Gene: Fxn  Location: Chr19:24261453-24280605 bp, - strand  Genetic Position: Chr19, 19.39 cM, cytoband C1
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:75420
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129/Sv
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThis 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 8 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 Fxn Mutation:  29 strains or lines available
References
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
All:  7 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/11/2018
MGI 6.12
The Jackson Laboratory