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C57BL/6JCya-Fxr1em1/Cya
Common Name:
Fxr1-KO
Product ID:
S-KO-02136
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Fxr1-KO
Strain ID
KOCMP-14359-Fxr1-B6J-VA
Gene Name
Fxr1
Product ID
S-KO-02136
Gene Alias
1110050J02Rik; 9530073J07Rik; Fxr1h; Fxr1p
Background
C57BL/6JCya
NCBI ID
14359
Modification
Conventional knockout
Chromosome
3
Phenotype
MGI:104860
Document
Click here to download >>
Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Fxr1em1/Cya mice (Catalog S-KO-02136) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000001620
NCBI RefSeq
NM_001113188
Target Region
Exon 8~9
Size of Effective Region
~1.0 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Fxr1, also known as Fragile X mental retardation autosomal 1, is an RNA-binding protein belonging to the Fragile X-related (FXR) family. It plays crucial roles in various biological processes, such as translational regulation, mRNA metabolism, and acts as a signaling scaffold. It is involved in pathways related to cell shape regulation, synaptic function, and spermatid development, and is important for normal development as its loss of function is intolerant in humans and lethal in neonatal mice [1,2,4]. Genetic models, like KO/CKO mouse models, are valuable for studying its functions.

Germline-specific Fxr1 ablation in mice impaired the translation of target mRNAs, causing defective spermatid development and male infertility, indicating its essential role in spermiogenesis [1]. Point mutations in Fxr1, similar to those in its homolog FMR1 causing fragile X syndrome, disrupted the Fxr1 network, preventing actomyosin remodeling, which is vital for cell shape, migration, and synaptic function [2]. In Fxr1-related congenital myopathy, biallelic pathogenic variants in Fxr1 led to different phenotypes from severe infantile forms to milder adult-onset proximal muscle weakness [3].

In summary, Fxr1 is essential for processes like spermiogenesis, actomyosin remodeling, and muscle development. Mouse models with Fxr1 ablation or mutations have revealed its role in male infertility, congenital myopathy, and processes related to cell and synaptic functions, contributing to our understanding of these disease areas.

References:

1. Kang, Jun-Yan, Wen, Ze, Pan, Duo, Huang, Ying, Liu, Mo-Fang. 2022. LLPS of FXR1 drives spermiogenesis by activating translation of stored mRNAs. In Science (New York, N.Y.), 377, eabj6647. doi:10.1126/science.abj6647. https://pubmed.ncbi.nlm.nih.gov/35951695/

2. Chen, Xiuzhen, Fansler, Mervin M, Janjoš, Urška, Ule, Jernej, Mayr, Christine. 2024. The FXR1 network acts as a signaling scaffold for actomyosin remodeling. In Cell, 187, 5048-5063.e25. doi:10.1016/j.cell.2024.07.015. https://pubmed.ncbi.nlm.nih.gov/39106863/

3. Mroczek, Magdalena, Longman, Cheryl, Farrugia, Maria Elena, Straub, Volker, Yoon, Grace. 2022. FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum. In Journal of medical genetics, 59, 1069-1074. doi:10.1136/jmedgenet-2021-108341. https://pubmed.ncbi.nlm.nih.gov/35393337/

4. Méndez-Albelo, Natasha M, Sandoval, Soraya O, Xu, Zhiyan, Zhao, Xinyu. 2024. An in-depth review of the function of RNA-binding protein FXR1 in neurodevelopment. In Cell and tissue research, 398, 63-77. doi:10.1007/s00441-024-03912-8. https://pubmed.ncbi.nlm.nih.gov/39155323/

Quality Control Standard
Sperm Test

Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.

Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.

Environmental Standards:SPF
Available Region:Global
Source:Cyagen
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