C57BL/6JCya-Stag1em1flox/Cya
Common Name:
Stag1-flox
Product ID:
S-CKO-05328
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Stag1-flox
Strain ID
CKOCMP-20842-Stag1-B6J-VA
Gene Name
Product ID
S-CKO-05328
Gene Alias
SA-1; Scc3
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
9
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Stag1em1flox/Cya mice (Catalog S-CKO-05328) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000129269
NCBI RefSeq
NM_009282
Target Region
Exon 3
Size of Effective Region
~1.0 kb
Detailed Document
Overview of Gene Research
Stag1, a component of the STAG subunit within the core cohesin complex, plays a crucial role in processes like chromosome segregation and gene transcription as part of the cohesin pathway [1,4]. Cohesinopathies, rare neurodevelopmental disorders, can arise from its dysfunction [1].
Mutations in Stag1 have been identified in 17 individuals from 16 families with unspecific syndromic intellectual disability. These patients had common facial features, some had mild microcephaly and epilepsy [1]. In hematopoietic stem and progenitor cells, Stag1 and Stag2 have distinct roles. While concurrent loss of Stag2 and Stag1 abrogated hematopoiesis, Stag2 loss alone led to decreased chromatin accessibility and transcription of lineage-specification genes [2]. Moreover, STAG2-deficient cancers show a synthetic lethal interaction with Stag1, making Stag1 a potential therapeutic target [3].
In summary, Stag1 is essential for chromosome-related functions and gene regulation. Studies on Stag1, especially through patient cases and cell-based functional analysis, have revealed its significance in neurodevelopmental disorders and cancer, highlighting its potential as a therapeutic target in STAG2-deficient cancers.
References:
1. Lehalle, Daphné, Mosca-Boidron, Anne-Laure, Begtrup, Amber, Thauvin-Robinet, Christel, Faivre, Laurence. 2017. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. In Journal of medical genetics, 54, 479-488. doi:10.1136/jmedgenet-2016-104468. https://pubmed.ncbi.nlm.nih.gov/28119487/
2. Viny, Aaron D, Bowman, Robert L, Liu, Yu, Koche, Richard, Levine, Ross L. 2019. Cohesin Members Stag1 and Stag2 Display Distinct Roles in Chromatin Accessibility and Topological Control of HSC Self-Renewal and Differentiation. In Cell stem cell, 25, 682-696.e8. doi:10.1016/j.stem.2019.08.003. https://pubmed.ncbi.nlm.nih.gov/31495782/
3. van der Lelij, Petra, Newman, Joseph A, Lieb, Simone, Gileadi, Opher, Petronczki, Mark. 2020. STAG1 vulnerabilities for exploiting cohesin synthetic lethality in STAG2-deficient cancers. In Life science alliance, 3, . doi:10.26508/lsa.202000725. https://pubmed.ncbi.nlm.nih.gov/32467316/
4. Di Muro, Ester, Palumbo, Pietro, Benvenuto, Mario, Carella, Massimo, Palumbo, Orazio. 2021. Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder. In Genes, 12, . doi:10.3390/genes12081116. https://pubmed.ncbi.nlm.nih.gov/34440290/
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