These frataxin knock-in/knock-out mice may be useful in studies of Friedreich's Ataxia.
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IMR Colony, The Jackson Laboratory
Genetic Background | Generation |
---|---|
|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Targeted (Null/Knockout) | Fxn | frataxin |
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Targeted (Inserted expressed sequence, Humanized sequence) | Fxn | frataxin |
These frataxin knock-in/knock-out animals (KIKOΔneo) mice harbor one allele of the frataxin (GAA)230Δneo expansion mutation (Fxntm1.1Pand) on one chromosome, and one allele of the frataxin exon 4-deleted mutation (Fxntm1Mkn) on the homologous chromosome. This is similar to frataxin KIKO mice (Stock No. 014162), with the exception that these KIKOΔneo mice have the (GAA)230 expansion allele with the neo selection cassette removed. Characterization of KIKO mice performed at The Jackson Laboratory revealed that starting at 6 months of age, these animals exhibit an abnormal "weaving" gait when subjected to a forced treadmill walk. This phenotype occurs with increasing penetrance as the mice age.
Importation of this model was supported by the Friedreich's Ataxia Research Alliance (FARA).
To generate these frataxin knock-in/knock-out animals (KIKOΔneo), C57BL/6J-congenic mice heterozygous for the frataxin (GAA)230 expansion mutation (Fxntm1Pand; Stock No. 008470) were first bred with C57BL/6-congenic mice harboring the embryonic cre-expressing mutation Meox2-Cre (Meox2tm1(cre)Sor; Stock No. 003755). Progeny bearing the GAA expansion with the neo selection cassette deleted ((GAA)230Δneo ; Fxntm1.1Pand) were bred together, and the Meox2-Cre mutation was selectively removed. These (GAA)230Δneo "knock-in" mice were given the Stock No. 011113. Next, the (GAA)230Δneo mice were bred with C57BL/6J-congenic mice heterozygous for the frataxin exon 4-deleted mutation (Fxntm1Mkn; from Stock No. 012253). Progeny bearing both the (GAA)230Δneo (knock-in) allele and the exon 4-deleted (knock-out) allele were bred together, and given the Stock No. 012329. These KIKOΔneo mice no longer harbor the Tg(FXN)YG8Pook transgene. To maintain the live colony, females homozygous for the (GAA)230Δneo allele (Fxntm1.1Pand) are bred with males heterozygous for the exon 4-deleted mutation (Fxntm1Mkn) every generation.
Expressed Gene | Fxn, frataxin, mouse, laboratory |
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Site of Expression | |
Site of Expression |
Allele Name | targeted mutation 1, Michel Koenig |
---|---|
Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | Frda-; Frdadel4 |
Gene Symbol and Name | Fxn, frataxin |
Gene Synonym(s) | |
Expressed Gene | Fxn, frataxin, mouse, laboratory |
Strain of Origin | 129/Sv |
Chromosome | 19 |
Molecular Note | A 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. |
Allele Name | targeted mutation 1.1, Massimo Pandolfo |
---|---|
Allele Type | Targeted (Inserted expressed sequence, Humanized sequence) |
Allele Synonym(s) | |
Gene Symbol and Name | Fxn, frataxin |
Gene Synonym(s) | |
Promoter | Fxn, frataxin, mouse, laboratory |
Strain of Origin | 129/Sv |
Chromosome | 19 |
Molecular Note | Mice carrying the Fxntm1Pand allele were crossed with mice carrying the Meox2tm1(cre)Sor allele to remove the neomycin cassette, leaving an insertion of a GAA230 repeat expansion. |
Mutations Made By | Massimo Pandolfo, Universite Libre de Bruxelles |
To maintain the live frataxin knock-in/knock-out (KIKOΔneo) colony, females homozygous for the (GAA)230Δneo allele (Fxntm1.1Pand, see Stock No. 011113) are bred with males heterozygous for the exon 4-deleted mutation (Fxntm1Mkn, see Stock No. 016842) every generation.
When using the KIKO FA mouse strain in a publication, please cite the originating article(s) and include JAX stock #012329 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or Wildtype for Fxn<tm1.1Pand>, Heterozygous or Wildtype for Fxn<tm1Mkn> |
Frozen Mouse Embryo | B6.Cg-Fxn<tm1.1Pand> Fxn<tm1Mkn>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.Cg-Fxn<tm1.1Pand> Fxn<tm1Mkn>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.Cg-Fxn<tm1.1Pand> Fxn<tm1Mkn>/J Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | B6.Cg-Fxn<tm1.1Pand> Fxn<tm1Mkn>/J Frozen Embryo | $3373.50 |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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