Friedreich's ataxia (FA) is a hereditary neuromuscular disease affecting mainly the nervous system and the heart, with a population incidence of one in 50,000 worldwide. It presents with muscle weakness and ataxia (loss of balance and coordination). Most FA patients have a repeat expansion in the FXN gene, resulting in a deficiency of the mitochondrial protein frataxin.
JAX offers a suite of highly-validated FA-relevant cell and mouse models for neuroscience research and drug discovery, paired with expertise in developing comprehensive preclinical solutions tailored to your FA study goals. When you partner with JAX, we bring Ph.D.-level study directors to every project - delivering comprehensive project design, execution, and robust data delivery. Our study capabilities are broad, including readouts for behavioral data, advanced physiology, neuromuscular & electrophysiology, biomarker analysis, and more.
In addition to FA mouse models, The Jackson Laboratory also offers human induced pluripotent stem cell (hiPSC) lines carrying neuromuscular disease-relevant variants, providing complementary tools for translational research.
See all FA Mouse Models at JAX
Common Strain Name | Phenotype | Disease Latency | Details |
|---|---|---|---|
Fxnnull::YG8s(GAA)>800** |
| 2 months |
|
Fxnflox/null::PV-Cre** |
| 3 months |
|
Fxnflox/null::MCK-Cre |
| 3 months |
|
Fxnnull::YG8s(GAA)~300* |
| 2 months |
|
*Cryopreserved Strain
** For-profit institutions require a license
JAX brings deep preclinical expertise to Friedreich's Ataxia (FA) research, supporting both prophylactic and therapeutic study designs across the full arc of drug development.
We offer flexible study design that can be tailored as prophylactic or therapeutic interventions, with dosing routes and schedules customized to match the pharmacokinetics and mechanism of action of your therapeutic candidate.
In-Life Assessments
Post-mortem Study Readouts
Consult About Your Ataxia Study Today
Study variables are different depending on your model of choice and research needs. Below is a sample study option.
| Timeline | 8-13 weeks - depending on model |
|---|---|
| Groups | Typical n per group: N=12, mixed sex |
| In Vivo Readouts |
|
| Daily Dosing | Options: IP/PO/SC/IV |
| Post-mortem |
|
| Extra Histology/ Assays/Gene Expression |
|
Post-mortem study tissue analysis is available.
Cardiac-Specific Model: Fxnflox/null::MCK-Cre 029720
(A) SDH Colorimetric Assay. Mitochondria are isolated and quantified via SDH Colorimetric assay; Fxnflox/null::MCK-Cre mutants show decreased SDH activity compared to wildtype that worsens over time (B & C) SDH Histoenzymatic Assay. Cardiac tissue is sectioned and stained with Nitro blue tetrazolium chloride (NBT) to qualitatively assess cell viability as a function of redox potential. C1: transverse heart section of Fxnflox/null::MCK-Cre mutant at 10 weeks. C2: transverse heart section of wildtype.
Human GAA Repeat Expansion Model: Fxnnull::YG8s(GAA)>800 030395
Human Frataxin Protein Expression: Frataxin protein levels measured by ELISA in cerebellum and heart tissue lysates are significantly lower in 800 GAA repeat line compared to the models with 250 GAA and 600 GAA repeats.
Neuronal-Specific Model: Fxnflox/null::PV-Cre 029721
Open Field: Progressive ataxia is observed in Fxnflox/null::PV-Cre mutants at ~9-10 weeks, reflected in increased movement compared to wild type mice in the open field assay. Total Distance by time measured at 12 weeks of age.
Access our guide to learn how JAX Preclinical Services can support your neurobiology research. It covers available mouse models, routes of administration, behavioral and physiological assay menus, and example study designs, alongside supporting resources such as biospecimens, hiPSCs, and custom model generation.
