Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Fxntm2.1Mkn
Name:	frataxin; targeted mutation 2.1, Michel Koenig
MGI ID:	MGI:2177177
Synonyms:	Frdadelta
Gene:	Fxn  Location: Chr19:24238817-24257969 bp, - strand  Genetic Position: Chr19, 19.39 cM, cytoband C1
Alliance:	Fxntm2.1Mkn page

Germline Transmission:	Earliest citation of germline transmission: J:75420
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129/Sv

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   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)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	6 anatomical structure(s)

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:	40 strains or lines available

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:	8 reference(s)