C57BL/6JCya-Rfx3em1flox/Cya
Common Name:
Rfx3-flox
Product ID:
S-CKO-18628
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Rfx3-flox
Strain ID
CKOCMP-19726-Rfx3-B6J-VB
Gene Name
Product ID
S-CKO-18628
Gene Alias
C230093O12Rik; MRFX3
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
19
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Rfx3em1flox/Cya mice (Catalog S-CKO-18628) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000174850
NCBI RefSeq
NM_011265.3
Target Region
Exon 6
Size of Effective Region
~1.2 kb
Detailed Document
Overview of Gene Research
Rfx3, or Regulatory Factor X 3, is a major transcription factor essential for ciliogenesis and cilia functions [2]. It also regulates pancreatic islet cell differentiation and mature β -cell functions [2]. RFX genes, including Rfx3, are evolutionarily conserved transcription factors acting as master regulators of central nervous system development and ciliogenesis [1].
In mouse models, Rfx3 -deficient mice exhibit left-right asymmetry defects due to a pronounced defect in nodal cilia, indicating its role in nodal cilium development and left-right asymmetry specification [4]. Pancreatic islets of perinatal Rfx3(-/-) mice show a marked reduction in insulin-producing beta-cells, with defective beta-cells exhibiting reduced insulin, Glut-2, and Gck expression, leading to glucose intolerance [5]. In human studies, deleterious variants in Rfx3 are associated with autism spectrum disorder (ASD), intellectual disability, and/or attention-deficit/hyperactivity disorder (ADHD) [1]. Loss of Rfx3 in human induced pluripotent stem cell-derived pancreatic islet organoids disrupts pancreatic endocrine gene regulation, reduces hormone-secreting islet cells, and impairs beta cell function and insulin secretion [3].
In conclusion, Rfx3 is crucial for ciliogenesis, pancreatic islet cell differentiation, and central nervous system development. Mouse models, especially Rfx3 knockout models, have revealed its role in diseases such as left-right asymmetry defects, glucose intolerance, and neurodevelopmental disorders like ASD, intellectual disability, and ADHD. These findings enhance our understanding of related biological processes and disease mechanisms.
References:
1. Harris, Holly K, Nakayama, Tojo, Lai, Jenny, Beggs, Alan H, Yu, Timothy W. 2021. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. In Genetics in medicine : official journal of the American College of Medical Genetics, 23, 1028-1040. doi:10.1038/s41436-021-01114-z. https://pubmed.ncbi.nlm.nih.gov/33658631/
2. Chen, Baoen, Niu, Jixiao, Kreuzer, Johannes, Haas, Wilhelm, Wu, Xu. 2018. Auto-fatty acylation of transcription factor RFX3 regulates ciliogenesis. In Proceedings of the National Academy of Sciences of the United States of America, 115, E8403-E8412. doi:10.1073/pnas.1800949115. https://pubmed.ncbi.nlm.nih.gov/30127002/
3. Memon, Bushra, Aldous, Noura, Elsayed, Ahmed K, Hayat, Sikander, Abdelalim, Essam M. 2025. RFX3 is essential for the generation of functional human pancreatic islets from stem cells. In Diabetologia, , . doi:10.1007/s00125-025-06424-4. https://pubmed.ncbi.nlm.nih.gov/40263183/
4. Bonnafe, E, Touka, M, AitLounis, A, Durand, B, Reith, W. . The transcription factor RFX3 directs nodal cilium development and left-right asymmetry specification. In Molecular and cellular biology, 24, 4417-27. doi:. https://pubmed.ncbi.nlm.nih.gov/15121860/
5. Ait-Lounis, Aouatef, Bonal, Claire, Seguín-Estévez, Queralt, Meda, Paolo, Reith, Walter. 2010. The transcription factor Rfx3 regulates beta-cell differentiation, function, and glucokinase expression. In Diabetes, 59, 1674-85. doi:10.2337/db09-0986. https://pubmed.ncbi.nlm.nih.gov/20413507/
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