C57BL/6JCya-Sash3em1flox/Cya
Common Name:
Sash3-flox
Product ID:
S-CKO-15865
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Sash3-flox
Strain ID
CKOCMP-74131-Sash3-B6J-VA
Gene Name
Product ID
S-CKO-15865
Gene Alias
1200013B08Rik; SLY1
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
X
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Sash3em1flox/Cya mice (Catalog S-CKO-15865) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000033427
NCBI RefSeq
NM_028773
Target Region
Exon 4
Size of Effective Region
~0.8 kb
Detailed Document
Overview of Gene Research
SASH3, also called SH3-containing lymphocyte protein (SLY1), is a putative adaptor protein. It is postulated to play a crucial role in organizing signaling complexes and propagating signal transduction cascades in lymphocytes. It is involved in pathways like natural killer cell-mediated cytotoxicity, Th17 cell differentiation, and multiple immune-related signaling pathways [1,3].
In humans, deleterious variants in SASH3 cause a novel form of X-linked combined immunodeficiency with immune dysregulation. Patients show recurrent infections, autoimmune cytopenias, and lymphopenia of multiple cell types, along with impaired T-cell functions such as proliferation and survival [1]. In a case, an adult patient with a SASH3 loss-of-function variant initially diagnosed with common variable immunodeficiency had abnormal immunological phenotypes [2]. Also, a patient with an SASH3 germline mutation had autoimmune haemolytic anaemia and immune thrombocytopenia, showing the role of SASH3 in immune-mediated cytopenias [4].
In conclusion, SASH3 is essential for lymphocyte function and survival. The study of SASH3-deficient models, both in humans with genetic mutations and potentially in mouse models (by inference from the identified human phenotypes similar to mouse Sly1-related phenotypes), has revealed its significance in immunodeficiency and immune dysregulation diseases, highlighting its potential as a key factor in understanding and treating such conditions [1].
References:
1. Delmonte, Ottavia M, Bergerson, Jenna R E, Kawai, Tomoki, Murphy, Philip M, Notarangelo, Luigi D. . SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation. In Blood, 138, 1019-1033. doi:10.1182/blood.2020008629. https://pubmed.ncbi.nlm.nih.gov/33876203/
2. Labrador-Horrillo, Moisés, Franco-Jarava, Clara, Garcia-Prat, Marina, Martinez-Gallo, Mónica, Colobran, Roger. 2022. Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency. In Frontiers in immunology, 13, 881206. doi:10.3389/fimmu.2022.881206. https://pubmed.ncbi.nlm.nih.gov/35464398/
3. Chen, Xi, Yuan, Yixiao, Ren, Wenjun, Niu, Xiaoqun, Jiang, Xiulin. 2022. Pan-Cancer Integrated Analysis Identification of SASH3, a Potential Biomarker That Inhibits Lung Adenocarcinoma Progression. In Frontiers in oncology, 12, 927988. doi:10.3389/fonc.2022.927988. https://pubmed.ncbi.nlm.nih.gov/35756681/
4. Novak, Wolfgang, Berner, Jakob, Svaton, Michael, Kager, Leo, Boztug, Kaan. 2023. Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3. In British journal of haematology, 203, 678-683. doi:10.1111/bjh.19061. https://pubmed.ncbi.nlm.nih.gov/37646304/
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