C57BL/6JCya-Spenem1flox/Cya
Common Name
Spen-flox
Product ID
S-CKO-12064
Backgroud
C57BL/6JCya
Strain ID
CKOCMP-56381-Spen-B6J-VA
When using this mouse strain in a publication, please cite “Spen-flox Mouse (Catalog S-CKO-12064) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Basic Information
Strain Name
Spen-flox
Strain ID
CKOCMP-56381-Spen-B6J-VA
Gene Name
Product ID
S-CKO-12064
Gene Alias
Mint, mKIAA0929
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
Chr 4
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Number
ENSMUST00000105786
NCBI RefSeq
NM_019763
Target Region
Exon 4~5
Size of Effective Region
~1.6 kb
Overview of Gene Research
Spen, also known as SHARP (SMART/HDAC1-associated repressor protein), is a transcriptional repressor. It plays a crucial role in multiple biological processes. Spen is involved in X chromosome inactivation (XCI), where it binds to the long non-coding RNA Xist, recruits histone deacetylases, and contributes to the establishment of facultative heterochromatin on the inactive X chromosome [2,3,4]. It is also relevant in various developmental processes and has been associated with pathways related to neurodevelopment, heart function, and liver maturation [1,5,6].
In gene-knockout studies, Spen null female mouse embryonic stem cells are defective in Xist upregulation upon differentiation, indicating its importance in the initiation of XCI [3]. In zebrafish, targeted Spen inactivation leads to progressive impairment of cardiac function, with diminished cardiac contractile force, bradycardia, atrioventricular block, and heart chamber fibrillation, suggesting its role in heart function [5]. Hepatocyte-specific disruption of Spen in mice represses hepatic maturation, mainly by decreasing hepatic metabolic function and disrupting hepatocyte zonation [6].
In conclusion, Spen is essential for X chromosome inactivation, normal heart function, and hepatocyte maturation. Studies using gene-knockout mouse models and other genetic models have revealed its role in these biological processes. In addition, Spen haploinsufficiency is associated with a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome, highlighting its significance in understanding certain genetic diseases [1].
References：
1. Radio, Francesca Clementina, Pang, Kaifang, Ciolfi, Andrea, Holder, Jimmy Lloyd, Tartaglia, Marco. 2021. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. In American journal of human genetics, 108, 502-516. doi:10.1016/j.ajhg.2021.01.015. https://pubmed.ncbi.nlm.nih.gov/33596411/
2. Giaimo, Benedetto Daniele, Robert-Finestra, Teresa, Oswald, Franz, Gribnau, Joost, Borggrefe, Tilman. 2021. Chromatin Regulator SPEN/SHARP in X Inactivation and Disease. In Cancers, 13, . doi:10.3390/cancers13071665. https://pubmed.ncbi.nlm.nih.gov/33916248/
3. Robert-Finestra, Teresa, Tan, Beatrice F, Mira-Bontenbal, Hegias, Heard, Edith, Gribnau, Joost. 2021. SPEN is required for Xist upregulation during initiation of X chromosome inactivation. In Nature communications, 12, 7000. doi:10.1038/s41467-021-27294-5. https://pubmed.ncbi.nlm.nih.gov/34853312/
4. Dossin, François, Pinheiro, Inês, Żylicz, Jan J, Dekker, Job, Heard, Edith. 2020. SPEN integrates transcriptional and epigenetic control of X-inactivation. In Nature, 578, 455-460. doi:10.1038/s41586-020-1974-9. https://pubmed.ncbi.nlm.nih.gov/32025035/
5. Rattka, Manuel, Westphal, Sören, Gahr, Bernd M, Just, Steffen, Rottbauer, Wolfgang. 2021. Spen deficiency interferes with Connexin 43 expression and leads to heart failure in zebrafish. In Journal of molecular and cellular cardiology, 155, 25-35. doi:10.1016/j.yjmcc.2021.01.006. https://pubmed.ncbi.nlm.nih.gov/33549680/
6. Zhang, Jiayulin, Yang, Ziyan, Yan, Xianchun, Liang, Liang, Han, Hua. 2022. RNA-binding protein SPEN controls hepatocyte maturation via regulating Hnf4α expression during liver development. In Biochemical and biophysical research communications, 642, 128-136. doi:10.1016/j.bbrc.2022.12.057. https://pubmed.ncbi.nlm.nih.gov/36577249/
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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