Fragile X Syndrome (Fmr1)

Accelerate the availability of targeted therapies with the well-characterized and translationally relevant in vivo Fmr1 KO model

Home » Neurology Research Models and Services  » Rare disease models – Fragile X syndrome (Fmr1)
Fragile X Syndrome (FXS) is caused by mutations of the FMR1 gene, resulting in deficiency of the FMRP protein. FXS is characterized by mental retardation, delays in neurodevelopmental milestones, and autistic behavior. 

InnoSer is committed to helping industry innovators to accelerate the availability of FXS modifying-treatment to patients through our extensive experience in in vivo FXS modelling.

InnoSer offers studies using Fmr1 knock-out (KO) mouse model (Bakker et al. 1994). Fmr1 KO mice are translationally relevant due to the genetic and phenotypic similarities with patients. Using our own tests and protocols, we have confirmed a number of these phenotypes. 

Take advantage of InnoSer’s expertise, flexibility and collaborative approach for your research. We support our clients in identifying new drugs or applications, characterizing their pharmacological properties, and conducting safety and efficacy testing with state-of-the-art readout capabilities and histopathological analysis. 

Fmr1 KO key model characteristics:

  • Model is characterized on the C57BL/6J and FVB background. 
  • Altered spontaneous behaviours, cognitive impairment, hyperactivity, altered anxiety levels, and decreases in social interactions.
  • Changes in Event-Related Potentials (ERP) in electrocorticography (ECoG) typically observed in FXS patients are detectable in Fmr1 KO mice.
  • Phenotypic similarities observed are confirmed by extensive in-house validation via several protocols using automated home-cage systems (PhenoTyper™) and conventional behavioural tests (portion of results published together with Kramvis et al., 2013).
  • Fmr1 KO mice show key FXS characteristics at young age (starting at 6 weeks of age), allowing efficacy testing of targeted interventions as early as post-natal day 1.

Access relevant Fmr1 KO data on C57BL/6J and FVB background here 

Fragile X syndrome (Fmr1) lealfet for download with sample data

Key readouts

Test the efficacy of your treatments in the following battery of behavioural tests:

Test the efficacy of your treatments with the following biological readouts:

EEG analyses and post-mortem analyses 

  • Baseline spectral analyses of ECoG data 
  • Analysis of Auditory event related potentials in ECoG data 
  • Tissue collection & analysis 

 Related rare disease model options

Auditory Event-Related Potentials EEG-Recording

We show similar EEG traces in Fmr1 KO mice, typically observed in FXS patients. 

Infantile Epileptic Encephalopathy

InnoSer offers services using a unique Stxbp1 +/- mouse model.

Vanishing White Matter

InnoSer offers unique services with an Eif2b4 / Eif2b5 mouse model of vanishing white matter (VWM).

AAALAC Accreditation

InnoSer has earned the AAALAC accreditation, demonstrating our commitment to responsible animal care and use. AAALAC International is a nonprofit organization that promotes the humane treatment of animals in science through voluntary accreditation and assessment programs. Our accreditation is valid for three years, incl. 2023. Read more about the AAALAC accreditation programme here.

AAALAC logo

Animal Welfare

The 3Rs impact everything from policy and regulatory change to the development and uptake of new technologies and approaches. This is why Innoser has ongoing commitment and monitoring of these processes. The steps we practice maximize our ability to replace, reduce and refine animal involvement and facilitate our commitment to these principles when it comes to research and drug development.

References

  • Consorthium TD, Bakker CE, Verheij C, Willemsen R, van der Helm R, Oerlemans F, Vermey M, Bygrave A, Hoogeveen A, Oostra BA, Reyniers E. Fmr1 knockout mice: a model to study fragile X mental retardation. Cell. 1994 Jul 15;78(1):23-33.
  • Kramvis I, Mansvelder HD, Loos M, Meredith R. Hyperactivity, perseveration and increased responding during attentional rule acquisition in the Fragile X mouse model. Frontiers in behavioral neuroscience. 2013 Nov 21;7:172.

Need more information?

If you have any questions about how we can help accelerate your research,

then let us know