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C57BL/6JCya-Pfn1em1flox/Cya
Common Name:
Pfn1-flox
Product ID:
S-CKO-04251
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Pfn1-flox
Strain ID
CKOCMP-18643-Pfn1-B6J-VA
Gene Name
Pfn1
Product ID
S-CKO-04251
Gene Alias
Pfn
Background
C57BL/6JCya
NCBI ID
18643
Modification
Conditional knockout
Chromosome
11
Phenotype
MGI:97549
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-Pfn1em1flox/Cya mice (Catalog S-CKO-04251) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000018437
NCBI RefSeq
NM_011072
Target Region
Exon 2
Size of Effective Region
~0.7 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Pfn1, or Profilin 1, is an actin-binding protein. It regulates actin polymerization, cell proliferation, apoptosis, angiogenesis, and carcinogenesis [2]. It is also involved in neuronal growth and differentiation, membrane trafficking, and regulation of the actin cytoskeleton [6]. Genetic models are valuable for studying Pfn1's role in biological processes and diseases.

In the context of amyotrophic lateral sclerosis (ALS), patients with PFN1 mutations, like the M114V mutation, typically show a phenotype with pedigrees over five cases, an age of onset around 50 years, lower limb onset, and no cognitive impairment [1]. In iPSC-derived microglia harboring ALS-related PFN1 mutations, there are lipid dysmetabolism, autophagy dysregulation, and deficient phagocytosis, indicating a gain-of-toxic function for mutant PFN1 within autophagic and endo-lysosomal pathways [4,5]. In bovine myoblast cells, PFN1 negatively regulates myogenic differentiation via the Cdc42-PAK/JNK pathway [3]. In psoriasis, PFN1 acts as a negative regulator of psoriatic inflammation through the suppression of IκBζ, and its expression can be used as a biomarker for psoriasis severity [2]. In colorectal cancer, the HLA-F-AS1/miR-330-3p/PFN1 axis promotes cancer progression [7]. In the Chinese population, PFN1 gene polymorphisms are associated with bone mineral density (BMD) in males and β-C-Terminal telopeptide of type 1 collagen (β-CTX) in all subjects, and are related to male osteoporotic fractures [8].

In conclusion, Pfn1 is a multifunctional protein involved in various biological processes. Studies using different models, including those related to ALS, psoriasis, myogenesis, cancer, and osteoporosis, have revealed its crucial role in these disease-related biological processes. These findings help in understanding the molecular mechanisms underlying these diseases and may potentially lead to new therapeutic strategies.

References:
1. Corcia, Philippe, Lejeune, Pascal, Vourc'h, Patrick, Blasco, Helene, Meininger, Vincent. 2022. Comparison between PFN1 and SOD1 mutations in amyotrophic lateral sclerosis. In European journal of neurology, 30, 552-554. doi:10.1111/ene.15583. https://pubmed.ncbi.nlm.nih.gov/36176198/
2. Mok, Bo Ram, Kim, A-Ram, Baek, Seung Hwa, Shin, Jung U, Kim, Dong Hyun. 2022. PFN1 Prevents Psoriasis Pathogenesis through IκBζ Regulation. In The Journal of investigative dermatology, 142, 2455-2463.e9. doi:10.1016/j.jid.2022.01.023. https://pubmed.ncbi.nlm.nih.gov/35148999/
3. Zi, Jingjing, Xu, Jing, Luo, Jintang, Ding, Xiangbin, Zhang, Linlin. 2022. PFN1 Inhibits Myogenesis of Bovine Myoblast Cells via Cdc42-PAK/JNK. In Cells, 11, . doi:10.3390/cells11203188. https://pubmed.ncbi.nlm.nih.gov/36291059/
4. Funes, Salome, Jung, Jonathan, Gadd, Del Hayden, Landers, John E, Bosco, Daryl A. 2024. Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia. In Nature communications, 15, 2497. doi:10.1038/s41467-024-46695-w. https://pubmed.ncbi.nlm.nih.gov/38509062/
5. Funes, Salome, Gadd, Del Hayden, Mosqueda, Michelle, Landers, John E, Bosco, Daryl A. 2023. Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia. In bioRxiv : the preprint server for biology, , . doi:10.1101/2023.06.01.541136. https://pubmed.ncbi.nlm.nih.gov/37398081/
6. Pereira, Gabriel Rodrigues Coutinho, Tellini, Giovanni Henrique Almeida Silva, De Mesquita, Joelma Freire. 2019. In silico analysis of PFN1 related to amyotrophic lateral sclerosis. In PloS one, 14, e0215723. doi:10.1371/journal.pone.0215723. https://pubmed.ncbi.nlm.nih.gov/31216283/
7. Huang, Yongguo, Sun, Hong, Ma, Xiang, Liu, Zhisheng, Xiang, Yun. 2019. HLA-F-AS1/miR-330-3p/PFN1 axis promotes colorectal cancer progression. In Life sciences, 254, 117180. doi:10.1016/j.lfs.2019.117180. https://pubmed.ncbi.nlm.nih.gov/31863778/
8. Wu, Yinghao, Wu, Shengting, Yang, Erzhu, Lian, XiaoFeng, Xu, JianGuang. 2023. Association of PFN1 Gene Polymorphisms with Bone Mineral Density, Bone Turnover Markers, and Osteoporotic Fractures in Chinese Population. In Calcified tissue international, 113, 207-215. doi:10.1007/s00223-023-01102-2. https://pubmed.ncbi.nlm.nih.gov/37401976/
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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