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C57BL/6JCya-Rflnaem1flox/Cya
Common Name:
Rflna-flox
Product ID:
S-CKO-18820
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Rflna-flox
Strain ID
CKOCMP-73121-Rflna-B6J-VB
Gene Name
Rflna
Product ID
S-CKO-18820
Gene Alias
3110032G18Rik; Fam101a; cfm; cfm2
Background
C57BL/6JCya
NCBI ID
73121
Modification
Conditional knockout
Chromosome
5
Phenotype
MGI:1920371
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-Rflnaem1flox/Cya mice (Catalog S-CKO-18820) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000197746
NCBI RefSeq
NM_028443
Target Region
Exon 2
Size of Effective Region
~1.0 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Rflna, or refilin A, encodes one of the filamin-binding proteins. Refilins, along with filamins and myosins, play critical roles in forming perinuclear actin caps, which are involved in changing nuclear morphology during cell migration and differentiation [1].

A homozygous frameshift mutation in RFLNA (c.241delC, p.(Leu81Cysfs*111)) was identified in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome, suggesting that RFLNA is an additional causative gene for this syndrome, and defects in forming actin bundles and perinuclear actin caps may be a key mechanism in its development [1].

In lung adenocarcinoma, upregulation of RFLNA promoted cell proliferation, migration, invasion, and attenuated apoptosis, indicating its role in promoting the development and metastasis of the cancer [2]. A prognostic model including RFLNA was developed to predict immunotherapy response and prognosis in kidney renal clear cell carcinoma [5]. Also, regulatory changes in RFLNA significantly interacted with genetic ancestry and exacerbated cancer survival disparities in certain cancer types [3]. Promising cis-regulatory elements influencing horse withers height by regulating RFLNA were identified in ponies [4].

In conclusion, Rflna is important for the formation of perinuclear actin caps and has implications in multiple disease areas. Its mutations can lead to spondylocarpotarsal synostosis syndrome in humans, and it plays roles in cancer development, metastasis, and prognosis, as well as in determining body size in ponies. Studies on Rflna contribute to understanding disease mechanisms and potentially developing new therapeutic strategies.

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/
4. Li, Xingzheng, Wang, Zihao, Zhu, Min, Liao, Yuying, Yi, Guoqiang. 2025. Genomic Insights into Post-Domestication Expansion and Selection of Body Size in Ponies. In Advanced science (Weinheim, Baden-Wurttemberg, Germany), 12, e2413023. doi:10.1002/advs.202413023. https://pubmed.ncbi.nlm.nih.gov/40009528/
5. Yang, Guang Hua, Ma, Xu Dong, Wei, Xi Feng, Liu, Ran Lu, Wang, Chao. . A Novel KIF4A-related Model for Predicting Immunotherapy Response and Prognosis in Kidney Renal Clear Cell Carcinoma. In Combinatorial chemistry & high throughput screening, 28, 691-710. doi:10.2174/0113862073296897240212114403. https://pubmed.ncbi.nlm.nih.gov/38357945/
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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