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 Fxn^em2.1Lutzy 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 Fxn^em2.1Lutzy Tg(FXN)YG8Pook/800J

(030395)

These mice harbor a frataxin global knockout and a human transgene containing >800 GAA trinucleotide repeats.

B6.Cg-Fxn^em2Lutzy Fxn^em2.1Lutzy 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-Pvalb^tm1(cre)Arbr Fxn^em2Lutzy Fxn^em2.1Lutzy/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.