C57BL/6JCya-Puraem1/Cya
Common Name:
Pura-KO
Product ID:
S-KO-19834
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Pura-KO
Strain ID
KOCMP-19290-Pura-B6J-VA
Gene Name
Product ID
S-KO-19834
Gene Alias
6330411E07Rik; CAGER-1; Pur-alpha; ssCRE-BP
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
18
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Puraem1/Cya mice (Catalog S-KO-19834) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000051301
NCBI RefSeq
NM_008989
Target Region
Exon 2
Size of Effective Region
~5.9 kb
Detailed Document
Overview of Gene Research
PURA, encoding Pur-alpha, is a gene with repeated nucleic acid-binding domains conserved across species [3]. The protein it encodes binds specific DNA and RNA sequence elements, playing crucial roles in transcriptional and translational regulation [1,2,3,5]. It is involved in multiple biological processes, and its dysregulation is associated with various neurological and other disorders [1,2,3,5,6,7,8]. Genetic models, like mouse models, are valuable for studying PURA's functions.
PURA knockout mice die shortly after birth, with impacts on brain and hematopoietic development, indicating its essential role in these processes [3]. Mutations in the human PURA gene cause PURA syndrome, a neurodevelopmental disorder. Patient mutations across PURA impair its co-localization with processing bodies, affect its folding, RNA binding, and dimerization, which may explain the full disease penetrance in affected patients [2]. Additionally, PURA-related neurodevelopmental disorders show a range of symptoms, and the clinical severity seems related to the deletion/alteration size including PUR repeats rather than variant location [4].
In conclusion, PURA is essential for normal post-natal brain development and other biological processes. Studies using PURA knockout mouse models and human patient-derived data have revealed its role in neurodevelopmental disorders such as PURA syndrome. Understanding PURA's functions provides insights into the molecular mechanisms underlying these diseases, which may aid in developing diagnostic tools and treatments [2,3,4].
References:
1. Falsaperla, Raffaele, Sortino, Vincenzo, Schinocca, Marina Antonietta, Ruggieri, Martino, Pappalardo, Xena Giada. 2024. PURA-Related Neurodevelopmental Disorders with Epilepsy Treated with Ketogenic Diet: A Case-Based Review. In Genes, 15, . doi:10.3390/genes15070848. https://pubmed.ncbi.nlm.nih.gov/39062627/
2. Proske, Marcel, Janowski, Robert, Bacher, Sabrina, Sattler, Michael, Niessing, Dierk. 2024. PURA syndrome-causing mutations impair PUR-domain integrity and affect P-body association. In eLife, 13, . doi:10.7554/eLife.93561. https://pubmed.ncbi.nlm.nih.gov/38655849/
3. Daniel, Dianne C, Johnson, Edward M. 2017. PURA, the gene encoding Pur-alpha, member of an ancient nucleic acid-binding protein family with mammalian neurological functions. In Gene, 643, 133-143. doi:10.1016/j.gene.2017.12.004. https://pubmed.ncbi.nlm.nih.gov/29221753/
4. Taniguchi, Noritaka, Watanuki, Keisuke, Nakato, Daisuke, Kosaki, Kenjiro, Koga, Hiroshi. 2025. PURA-related neurodevelopmental disorders: a systematic review on genotype-phenotype correlations. In Journal of medical genetics, 62, 191-198. doi:10.1136/jmg-2024-110379. https://pubmed.ncbi.nlm.nih.gov/39824548/
5. Molitor, Lena, Bacher, Sabrina, Burczyk, Sandra, Niessing, Dierk. 2021. The Molecular Function of PURA and Its Implications in Neurological Diseases. In Frontiers in genetics, 12, 638217. doi:10.3389/fgene.2021.638217. https://pubmed.ncbi.nlm.nih.gov/33777106/
6. Reijnders, Margot R F, Janowski, Robert, Alvi, Mohsan, Hunt, David, Baralle, Diana. 2017. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. In Journal of medical genetics, 55, 104-113. doi:10.1136/jmedgenet-2017-104946. https://pubmed.ncbi.nlm.nih.gov/29097605/
7. Johannesen, Katrine M, Gardella, Elena, Gjerulfsen, Cathrine E, Møller, Rikke S, Rubboli, Guido. 2021. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. In Neurology. Genetics, 7, e613. doi:10.1212/NXG.0000000000000613. https://pubmed.ncbi.nlm.nih.gov/34790866/
8. Mroczek, Magdalena, Iyadurai, Stanley. 2023. Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options. In International journal of molecular sciences, 24, . doi:10.3390/ijms24032260. https://pubmed.ncbi.nlm.nih.gov/36768582/
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