Hyperactivity, Memory Defects, and Craniofacial Abnormalities in Zebrafish fmr1 Mutant Larvae.

Publication date: Feb 12, 2020

Fragile X syndrome (FXS) is a heritable mental retardation disease caused by unstable trinucleotide repeat sequences in FMR1. FXS is characterized by delayed development, hyperactivity, and autism behavior. Zebrafish is an excellent model to study FXS and the underlying function of fmr1. However, at present, fmr1 function is mainly studied via morpholinos or generated mutants using targeting induced local lesions in genomes. However, both of these methods generate off-target effects, making them suboptimal techniques for studying FXS. In this study, CRISPR/Cas9 technology was used to generate two zebrafish fmr1 mutant lines. High-throughput behavior analysis, qRT-PCR, and alcian blue staining experiments were employed to investigate fmr1 function. The fmr1 mutant line showed abnormal behavior, learning memory defects, and impaired craniofacial cartilage development. These features are similar to the human FXS phenotype, indicating that the fmr1 mutant generated in this study can be used as a new model for studying the molecular pathology of FXS. It also provides a suitable model for high-throughput screening of small molecule drugs for FXS therapeutics.

Hu, J., Chen, L., Yin, J., Yin, H., Huang, Y., and Tian, J. Hyperactivity, Memory Defects, and Craniofacial Abnormalities in Zebrafish fmr1 Mutant Larvae. 15231. 2020 Behav Genet.

Concepts Keywords
Autism Fragile X syndrome
Behavior Analysis CRISPR
Cartilage FXS
Cas9 Zebrafish
Craniofacial Biotechnology
CRISPR Non-coding RNA
Fmr1 Organisms
Fragile Branches of biology
Heritable Development hyperactivity autism
High Throughput Screening
Mental Retardation
Small Molecule
Trinucleotide Repeat


Type Source Name
disease MESH Defects
disease MESH Craniofacial Abnormalities
disease MESH Fragile X syndrome
disease MESH mental retardation
disease MESH development
disease MESH autism
disease MESH pathology

Original Article

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