C57BL/6JCya-Brat1em1flox/Cya
Common Name:
Brat1-flox
Product ID:
S-CKO-07496
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Brat1-flox
Strain ID
CKOCMP-231841-Brat1-B6J-VA
Gene Name
Product ID
S-CKO-07496
Gene Alias
Baat1
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
5
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Brat1em1flox/Cya mice (Catalog S-CKO-07496) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000100505
NCBI RefSeq
NM_001276287
Target Region
Exon 4
Size of Effective Region
~1.3 kb
Detailed Document
Overview of Gene Research
BRAT1, also known as BRCA1-associated ataxia telangiectasia mutated activator 1, is involved in crucial biological processes. It participates in the DNA damage response and maintenance of mitochondrial homeostasis. BRAT1 also interacts with INTS11/INTS9 subunits of the Integrator complex, which is involved in regulating gene expression, especially of key neurodevelopmental genes. This interaction is essential for normal neural differentiation [2,3,4,6].
Mutations in BRAT1 are associated with a range of disorders. Biallelic variants can lead to rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures syndrome (NEDCAS). Genotype-phenotype correlations show that biallelic nonsense, frameshift or inframe deletion/insertion variants result in the severe RMFSL phenotype, while genotypes with at least one missense are more likely associated with NEDCAS. Splice variants have a variable phenotype. Loss of BRAT1 function may decrease cell proliferation and migration and cause neuronal atrophy through impairment of mitochondrial homeostasis [1,2,5].
In conclusion, BRAT1 is vital for normal neurodevelopment and maintaining mitochondrial homeostasis. Studies on BRAT1-related mutations and their associated phenotypes, as well as the role of BRAT1 in gene regulation and neural differentiation, have enhanced our understanding of the pathophysiology of neurodevelopmental and neurodegenerative disorders associated with BRAT1 mutations.
References:
1. Engel, Camille, Valence, Stéphanie, Delplancq, Geoffroy, Burglen, Lydie, Piard, Juliette. 2023. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. In European journal of human genetics : EJHG, 31, 1023-1031. doi:10.1038/s41431-023-01410-z. https://pubmed.ncbi.nlm.nih.gov/37344571/
2. Kong, Weijing, Cao, Xianying, Lu, Cheng. 2024. Clinical characteristics of BRAT1-related disease: a systematic literature review. In Acta neurologica Belgica, 124, 1281-1288. doi:10.1007/s13760-024-02507-y. https://pubmed.ncbi.nlm.nih.gov/38607605/
3. Dokaneheifard, Sadat, Gomes Dos Santos, Helena, Valencia, Monica Guiselle, Arigela, Harikumar, Shiekhattar, Ramin. 2023. BRAT1 associates with INTS11/INTS9 heterodimer to regulate key neurodevelopmental genes. In bioRxiv : the preprint server for biology, , . doi:10.1101/2023.08.10.552743. https://pubmed.ncbi.nlm.nih.gov/37609215/
4. Cihlarova, Zuzana, Kubovciak, Jan, Sobol, Margarita, Caldecott, Keith W, Hanzlikova, Hana. 2022. BRAT1 links Integrator and defective RNA processing with neurodegeneration. In Nature communications, 13, 5026. doi:10.1038/s41467-022-32763-6. https://pubmed.ncbi.nlm.nih.gov/36028512/
5. Vercellino, Fabiana, Valerio, Massimo, Dusio, Maria Pia, Spano, Alice, D'Alfonso, Sandra. 2023. BRAT1 Mutation Retrospective Diagnosis: A Case Report. In Cureus, 15, e35655. doi:10.7759/cureus.35655. https://pubmed.ncbi.nlm.nih.gov/37009381/
6. Dokaneheifard, Sadat, Gomes Dos Santos, Helena, Guiselle Valencia, Monica, Edupuganti, Raghu Ram, Shiekhattar, Ramin. 2024. Neuronal differentiation requires BRAT1 complex to remove REST from chromatin. In Proceedings of the National Academy of Sciences of the United States of America, 121, e2318740121. doi:10.1073/pnas.2318740121. https://pubmed.ncbi.nlm.nih.gov/38805275/
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