C57BL/6JCya-Rflnaem1/Cya
Common Name
Rflna-KO
Product ID
S-KO-18321
Backgroud
C57BL/6JCya
Strain ID
KOCMP-73121-Rflna-B6J-VB
Status
When using this mouse strain in a publication, please cite “Rflna-KO Mouse (Catalog S-KO-18321) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Basic Information
Strain Name
Rflna-KO
Strain ID
KOCMP-73121-Rflna-B6J-VB
Gene Name
Product ID
S-KO-18321
Gene Alias
cfm, cfm2, Fam101a, 3110032G18Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
Chr 5
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Number
ENSMUST00000197746
NCBI RefSeq
NM_028443.3
Target Region
Exon 2
Size of Effective Region
~1.0 kb
Overview of Gene Research
RFLNA, encoding one of the filamin-binding proteins, plays a crucial role in forming perinuclear actin caps, which are involved in changing nuclear morphology during cell migration and differentiation [1].
A patient with a typical phenotype of spondylocarpotarsal synostosis syndrome was found to have a homozygous frameshift mutation in RFLNA, suggesting that RFLNA is an additional causative gene for this syndrome, and defects in forming actin bundles and perinuclear actin caps may be a critical mechanism for its development [1]. In lung adenocarcinoma, upregulation of RFLNA promotes cell proliferation, migration, invasion, and attenuates apoptosis, indicating its role in promoting cancer development and metastasis [2]. Also, in a pan-cancer analysis, RFLNA was among the genes that significantly interacted with genetic ancestry and exacerbated cancer survival disparities [3].
In summary, RFLNA is important for the formation of perinuclear actin caps. Its mutations or abnormal expression are associated with spondylocarpotarsal synostosis syndrome and lung adenocarcinoma development, as well as cancer survival disparities. Research on RFLNA helps to understand the underlying mechanisms of these diseases and may provide potential therapeutic targets.
References：
1. Shimizu, Hitomi, Watanabe, Satoshi, Kinoshita, Akira, Yoshiura, Koh-Ichiro, Dateki, Sumito. 2019. Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome. In Journal of human genetics, 64, 467-471. doi:10.1038/s10038-019-0581-9. https://pubmed.ncbi.nlm.nih.gov/30796325/
2. Shao, Fanggui, Ling, Liqun, Li, Changhong, Chen, Jie, Wang, Yumin. 2022. Establishing a metastasis-related diagnosis and prognosis model for lung adenocarcinoma through CRISPR library and TCGA database. In Journal of cancer research and clinical oncology, 149, 885-899. doi:10.1007/s00432-022-04495-z. https://pubmed.ncbi.nlm.nih.gov/36574046/
3. Lee, Kara Keun, Rishishwar, Lavanya, Ban, Dongjo, McDonald, John F, Jordan, I King. . Association of Genetic Ancestry and Molecular Signatures with Cancer Survival Disparities: A Pan-Cancer Analysis. In Cancer research, 82, 1222-1233. doi:10.1158/0008-5472.CAN-21-2105. https://pubmed.ncbi.nlm.nih.gov/35064017/
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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