C57BL/6JCya-Setd1aem1/Cya
Common Name:
Setd1a-KO
Product ID:
S-KO-17572
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Setd1a-KO
Strain ID
KOCMP-233904-Setd1a-B6J-VB
Gene Name
Product ID
S-KO-17572
Gene Alias
KMT2F; Nsccn1; mKIAA0339; mNSC1
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
7
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Setd1aem1/Cya mice (Catalog S-KO-17572) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000047157
NCBI RefSeq
NM_178029
Target Region
Exon 4
Size of Effective Region
~0.3 kb
Detailed Document
Overview of Gene Research
Setd1a, a lysine-methyltransferase, is a member of the Trithorax-related Set1 H3K4 methyltransferases conserved from yeast to human [3]. It plays a critical role in chromatin-mediated regulation of gene expression, and is involved in various cell cycle regulatory processes [4]. Setd1a is essential for embryonic development, and in adult mice, it is required for the establishment of definitive hematopoiesis [3].
Mouse models with a heterozygous loss-of-function mutation of Setd1a exhibit alterations in axonal branching and cortical synaptic dynamics, along with working memory deficits, suggesting its role in schizophrenia-related phenotypes. Reinstating Setd1a expression in adulthood can rescue cognitive deficits, and pharmacological antagonism of its counteracting demethylase LSD1 can fully rescue the behavioral and morphological deficits in these mice [1]. In humans, heterozygous variants of Setd1a are associated with a novel neurodevelopmental syndrome characterized by global developmental delay, intellectual disability, subtle facial dysmorphisms, and behavioral and psychiatric problems [2].
In conclusion, Setd1a is crucial for normal development and function, especially in the nervous system. Studies using gene-knockout mouse models have revealed its significant role in schizophrenia-related phenotypes and a novel neurodevelopmental syndrome, providing potential targets for therapeutic interventions in these disease areas.
References:
1. Mukai, Jun, Cannavò, Enrico, Crabtree, Gregg W, Xu, Bin, Gogos, Joseph A. 2019. Recapitulation and Reversal of Schizophrenia-Related Phenotypes in Setd1a-Deficient Mice. In Neuron, 104, 471-487.e12. doi:10.1016/j.neuron.2019.09.014. https://pubmed.ncbi.nlm.nih.gov/31606247/
2. Kummeling, Joost, Stremmelaar, Diante E, Raun, Nicholas, Kramer, Jamie M, Kleefstra, Tjitske. 2020. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. In Molecular psychiatry, 26, 2013-2024. doi:10.1038/s41380-020-0725-5. https://pubmed.ncbi.nlm.nih.gov/32346159/
3. Kranz, Andrea, Anastassiadis, Konstantinos. 2020. The role of SETD1A and SETD1B in development and disease. In Biochimica et biophysica acta. Gene regulatory mechanisms, 1863, 194578. doi:10.1016/j.bbagrm.2020.194578. https://pubmed.ncbi.nlm.nih.gov/32389824/
4. Colijn, Mark A, Carrion, Prescilla, Poirier-Morency, Guillaume, Pavlidis, Paul, Stowe, Robert M. 2023. SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases. In Progress in neuro-psychopharmacology & biological psychiatry, 129, 110888. doi:10.1016/j.pnpbp.2023.110888. https://pubmed.ncbi.nlm.nih.gov/37918557/
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