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C57BL/6JCya-Fmr1em1/Cya
Common Name:
Fmr1-KO
Product ID:
S-KO-02094
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Fmr1-KO
Strain ID
KOCMP-14265-Fmr1-B6J-VA
Gene Name
Fmr1
Product ID
S-KO-02094
Gene Alias
FMRP; Fmr-1
Background
C57BL/6JCya
NCBI ID
14265
Modification
Conventional knockout
Chromosome
X
Phenotype
MGI:95564
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-Fmr1em1/Cya mice (Catalog S-KO-02094) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000088546
NCBI RefSeq
NM_008031
Target Region
Exon 2
Size of Effective Region
~2.0 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Fmr1, or Fragile X Messenger Ribonucleoprotein 1, is a gene that encodes the fragile X mental retardation protein (FMRP). FMRP is proposed to act as a regulator of mRNA transport and translation of target mRNAs at the synapse [7]. The gene is involved in pathways related to neurodevelopment and is of great biological importance as its abnormalities are associated with multiple disorders [3,7]. Genetic models, such as mouse models, can be valuable for studying Fmr1.

Fmr1 is associated with three main syndromes. Fragile X syndrome (FXS), the most common inherited form of intellectual disability, typically results from CGG-repeat expansions in the Fmr1 gene, leading to lack of expression [1,3,7,8]. Rare missense or nonsense mutations in Fmr1 can also cause FXS-like phenotypes [1]. In addition, expansions between 55-200 CGG repeats (premutation) are linked to Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) [4,5,6,7]. The elevated Fmr1 mRNA in FXTAS suggests a toxic RNA gain-of-function effect, while the molecular basis of FXPOI is unknown [7]. In FXS, Fmr1 RNA can be mis-spliced in a CGG expansion-dependent manner, and antisense oligonucleotide treatment may offer a therapeutic approach [2].

In conclusion, Fmr1 is crucial for normal neurodevelopment through its role in mRNA regulation at synapses. Studies related to Fmr1, especially those using gene knockout or other genetic models, have provided insights into the pathogenesis of FXS, FXTAS, and FXPOI. Understanding Fmr1's functions helps in exploring potential therapeutic strategies for these associated disorders.

References:

1. Sitzmann, Adam F, Hagelstrom, Robert T, Tassone, Flora, Hagerman, Randi J, Butler, Merlin G. 2017. Rare FMR1 gene mutations causing fragile X syndrome: A review. In American journal of medical genetics. Part A, 176, 11-18. doi:10.1002/ajmg.a.38504. https://pubmed.ncbi.nlm.nih.gov/29178241/

2. Shah, Sneha, Sharp, Kevin J, Raju Ponny, Sithara, Berry-Kravis, Elizabeth, Richter, Joel D. 2023. Antisense oligonucleotide rescue of CGG expansion-dependent FMR1 mis-splicing in fragile X syndrome restores FMRP. In Proceedings of the National Academy of Sciences of the United States of America, 120, e2302534120. doi:10.1073/pnas.2302534120. https://pubmed.ncbi.nlm.nih.gov/37364131/

3. Gillett, Drew A, Tigro, Helene, Wang, Yuan, Suo, Zucai. 2024. FMR1 Disorders: Basics of Biology and Therapeutics in Development. In Cells, 13, . doi:10.3390/cells13242100. https://pubmed.ncbi.nlm.nih.gov/39768191/

4. Cao, Yiqu, Peng, Yun, Kong, Ha Eun, Allen, Emily G, Jin, Peng. 2020. Metabolic Alterations in FMR1 Premutation Carriers. In Frontiers in molecular biosciences, 7, 571092. doi:10.3389/fmolb.2020.571092. https://pubmed.ncbi.nlm.nih.gov/33195417/

5. Persico, Tiziana, Tranquillo, Maria Lucrezia, Seracchioli, Renato, Zuccarello, Daniela, Sorrentino, Ugo. 2023. PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene. In Genes, 15, . doi:10.3390/genes15010006. https://pubmed.ncbi.nlm.nih.gov/38275588/

6. Milà, Montserrat, Rodriguez-Revenga, Laia, Matilla-Dueñas, Antoni. . FMR1 Premutation: Basic Mechanisms and Clinical Involvement. In Cerebellum (London, England), 15, 543-5. doi:10.1007/s12311-016-0808-7. https://pubmed.ncbi.nlm.nih.gov/27338822/

7. Oostra, Ben A, Willemsen, Rob. 2009. FMR1: a gene with three faces. In Biochimica et biophysica acta, 1790, 467-77. doi:10.1016/j.bbagen.2009.02.007. https://pubmed.ncbi.nlm.nih.gov/19233246/

8. Mor-Shaked, Hagar, Eiges, Rachel. 2018. Reevaluation of FMR1 Hypermethylation Timing in Fragile X Syndrome. In Frontiers in molecular neuroscience, 11, 31. doi:10.3389/fnmol.2018.00031. https://pubmed.ncbi.nlm.nih.gov/29467618/

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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