Fragile X Syndrome – Fmr1 KO Mouse Model
Accelerate the availability of targeted FXS therapies with the well-characterized and translationally relevant in vivo Fmr1 KO model
Fmr1 KO Key Model Characteristics
Fragile X Syndrome (FXS) is the most prevalent inherited cause of mild-to-severe cause of intellectual disability and the most common monogenic cause of autism spectrum disorder (ASD). FXS is caused by mutations in the fragile X mental retardation protein 1 (FMR1) gene, resulting in the deficiency of the FMRP protein that plays a key role in synaptogenesis, as well as synaptic plasticity and architecture. The Fmr1 KO mouse model replicates many phenotypic features of human FXS, and therefore, represents a highly translationally relevant mouse model to study efficacy of novel disease-modifying treatments for FXS.
InnoSer is committed to helping industry innovators to accelerate the availability of FXS modifying-treatment to patients through our extensive experience in carrying out efficacy studies in the Fmr1 KO mouse model. Accordingly, InnoSer offers preclinical research services focusing on evaluating therapeutic efficacy in the Fmr1 KO mouse model via multiple validated behavioral readouts.
✓ 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.
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.
InnoSerの神経学専門家チームは、低分子化合物、ペプチド、酵素、オリゴヌクレオチド、遺伝子治療（ウイルスベクター例：AAV）に至るまで、多様な治療法に関する実務経験を有しています。
Your Fragile X Syndrome Research Starts Here.
Access detailed study timelines, essential readouts, and robust validation data for the Fmr1 KO mouse model (on C57BL/6J and FVB backgrounds).
Fmr1 KO Sample Data
Fmr1 KO mice show impaired performance in the discrimination learning that can be detected using CognitionWall™ discrimination learning task
Using the CognitionWall™, we developed a one-night automated test to efficiently identify discrimination learning impairments in mice, without time-consuming handling of mice. The CognitionWall™ is a wall with three entrances in front of a food dispenser. Mice are rewarded with a food reward when they choose to pass through one of the three entrances. The rate at which a mouse gains a relative preference for the rewarded entrance is used as a measure of discrimination learning.
Recent literature indicates that clinical EEG recording in FXS patients shows differences in ERP amplitudes; a phenomenon that we also detect in the Fmr1 KO mouse model of FXS.
Experimental setup for auditory event-related potential (AERP) EEG recording. During an ERP recording session, multiple trials are provided with a 100 msec white noise stimulus (~70 dB), with 4-6 sec inter trial interval. Trials with movement artifacts (deducted from XYZ activity) are excluded, generating a clean average AERP trace for the auditory cortex electrode.
Fmr1 KO Readouts
生物学的指標
EEG analyses and post-mortem analyses:
- Baseline spectral analyses of ECoG data
- Analysis of Auditory event related potentials in ECoG data
- Tissue collection & analysis
当チームの注目出版物
- Kramvis, I., Mansvelder, H. D., Loos, M., & Meredith, R. (2013). Hyperactivity, perseveration and increased responding during attentional rule acquisition in the Fragile X mouse model. Frontiers in behavioral neuroscience, 7, 172. https://doi.org/10.3389/fnbeh.2013.00172
あなたの研究を支える人々
ソフィー・カーマンス博士
主任神経科学研究員
トーマス・フォーゲルス博士
主任神経科学研究員
その他の関連する希少遺伝性疾患モデルを発見する
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