Friedreich's Ataxia Efficacy Studies

Friedreich’s Ataxia (FRDA) is an autosomal recessive neurodegenerative disorder that is predominantly caused by a homozygous GAA repeat expansion mutation within intron 1 of the Frataxin (FXN) gene. This inherited disease causes nervous system damage and movement problems. To date, there is no cure or effective treatment for FRDA.

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FRDA Efficacy Studies

Efficacy studies performed by JAX® In Vivo Services for Friedreich’s Ataxia commonly employ molecular analysis of frataxin (FXN) expression levels (including ELISA or western blotting) in addition to clinical observations, body weight, echocardiography (ECG) and tissue/blood collection.

Featured JAX® Models Include:

STOCK Fxnem2.1Lutzy Tg(FXN)YG8Pook/J (030930)
This model harbors a global knock-out of mouse frataxin and the human FXN YAC transgene small repeat YG8s (contracted integration to a single copy of the human FXN gene) with ~250-300 GAA trinucleotide sequence repeats (as of July 2017)

STOCK Fxnem2.1Lutzy Tg(FXN)YG8Pook/800J (030395)
These mice harbor a frataxin global knockout and a human transgene containing >800 GAA trinucleotide repeats.

B6.Cg-Fxnem2Lutzy Fxnem2.1Lutzy Tg(Ckmm-cre)5Khn/J (029720)
This model has a Cre-conditional frataxin allele, a frataxin global knockout allele and a cardiac/skeletal muscle-specific Cre recombinase transgene. This strain is widely used to study cardiac-specific frataxin depletion as a preclinical model to test enzyme replacement and gene therapies.

B6.Cg-Pvalbtm1(cre)Arbr Fxnem2Lutzy Fxnem2.1Lutzy/J (029721)
This triple mutant strain is designed to generate mice that are heterozygous for the frataxin null (global knock-out) allele with ablation of frataxin expression in parvalbumin-expressing neurons.