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Targeted Allele Detail
Symbol: Fxntm1Mkn
Name: frataxin; targeted mutation 1, Michel Koenig
MGI ID: MGI:2177162
Synonyms: Frda-, Frdadel4
Gene: Fxn  Location: Chr19:24261453-24280605 bp, - strand  Genetic Position: Chr19, 19.39 cM, cytoband C1
Germline Transmission:  Earliest citation of germline transmission: J:62185
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129/Sv
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA loxP-flanked PGK-neomycin resistance cassette replaced a genomic DNA fragment containing exon 4, which is highly conserved and often mutated in humans. An additional line was also produced in which the loxP flanked neomycin cassette was removed by Cre mediated recombination, but no distinction was made between these alleles in the original reference. From J:90098: The presence of a human FRDA transgene in hemizygous form in a Frdatm1Mkn homozygous null background rescues the embryonic lethal phenotype and complements for the loss of endogenous mouse frataxin. (J:62185)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 13 strains available      Cell Lines: 0 lines available
Carrying any Fxn Mutation:  31 strains or lines available
Original:  J:62185 Cossee M, et al., Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation. Hum Mol Genet. 2000 May 1;9(8):1219-26
All:  25 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
MGI 6.16
The Jackson Laboratory