RGD Reference Report - FMR1 deletion in rats induces hyperactivity with no changes in striatal dopamine transporter availability. - Rat Genome Database

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FMR1 deletion in rats induces hyperactivity with no changes in striatal dopamine transporter availability.

Authors: D'Elia, Annunziata  Schiavi, Sara  Manduca, Antonia  Rava, Alessandro  Buzzelli, Valeria  Ascone, Fabrizio  Orsini, Tiziana  Putti, Sabrina  Soluri, Andrea  Galli, Filippo  Soluri, Alessandro  Mattei, Maurizio  Cicconi, Rosella  Massari, Roberto  Trezza, Viviana 
Citation: D'Elia A, etal., Sci Rep. 2022 Dec 29;12(1):22535. doi: 10.1038/s41598-022-26986-2.
RGD ID: 401976427
Pubmed: PMID:36581671   (View Abstract at PubMed)
PMCID: PMC9800572   (View Article at PubMed Central)
DOI: DOI:10.1038/s41598-022-26986-2   (Journal Full-text)

Autism Spectrum Disorder (ASD) is a pervasive neurodevelopmental disorder emerging in early life characterized by impairments in social interaction, poor verbal and non-verbal communication, and repetitive patterns of behaviors. Among the best-known genetic risk factors for ASD, there are mutations causing the loss of the Fragile X Messenger Ribonucleoprotein 1 (FMRP) leading to Fragile X syndrome (FXS), a common form of inherited intellectual disability and the leading monogenic cause of ASD. Being a pivotal regulator of motor activity, motivation, attention, and reward processing, dopaminergic neurotransmission has a key role in several neuropsychiatric disorders, including ASD. Fmr1 Δexon 8 rats have been validated as a genetic model of ASD based on FMR1 deletion, and they are also a rat model of FXS. Here, we performed behavioral, biochemical and in vivo SPECT neuroimaging experiments to investigate whether Fmr1 Δexon 8 rats display ASD-like repetitive behaviors associated with changes in striatal dopamine transporter (DAT) availability assessed through in vivo SPECT neuroimaging. At the behavioral level, Fmr1 Δexon 8 rats displayed hyperactivity in the open field test in the absence of repetitive behaviors in the hole board test. However, these behavioral alterations were not associated with changes in striatal DAT availability as assessed by non-invasive in vivo SPECT and Western blot analyses.



Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Fmr1Ratdecreased thigmotaxis onsetIMP in juveniles and compared to wild type controlsRGD 
Fmr1em1SageRatdecreased thigmotaxis onsetIMP in juveniles and compared to wild type controlsRGD 
SD-Fmr1em1SageRatdecreased thigmotaxis onsetIMP in juveniles and compared to wild type controlsRGD 
Fmr1Rathyperactivity  IMP compared to wild type controlsRGD 
Fmr1em1SageRathyperactivity  IMP compared to wild type controlsRGD 
SD-Fmr1em1SageRathyperactivity  IMP compared to wild type controlsRGD 
Objects Annotated

Genes (Rattus norvegicus)
Fmr1  (fragile X messenger ribonucleoprotein 1)
Fmr1em1Sage  (FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs)

Strains
SD-Fmr1em1Sage  (NA)


Additional Information