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Fxntm1Pand
Targeted Allele Detail
Nomenclature
Symbol: Fxntm1Pand
Name: frataxin; targeted mutation 1, Massimo Pandolfo
MGI ID: MGI:3641251
Synonyms: frda230GAA
Gene: Fxn  Location: Chr19:24261453-24280586 bp, - strand  Genetic Position: Chr19, 19.39 cM, cytoband C1
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:109164
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129/Sv
Mutation
description
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Mutation detailsA targeting vector was designed to insert a GAA230 repeat expansion and a floxed neomycin resistance cassette into intron 1 of the locus. Western blot demonstrated that mutants expressed frataxin protein at 75% of wild-type levels in all tissues examined. (J:109164)
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: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Fxn Mutation:  30 strains or lines available
References
Original:  J:109164 Miranda CJ, et al., Frataxin knockin mouse. FEBS Lett. 2002 Feb 13;512(1-3):291-7
All:  4 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
09/10/2019
MGI 6.14
The Jackson Laboratory