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C57BL/6JCya-Gcfc2em1flox/Cya
Common Name:
Gcfc2-flox
Product ID:
S-CKO-10680
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Gcfc2-flox
Strain ID
CKOCMP-330361-Gcfc2-B6J-VA
Gene Name
Gcfc2
Product ID
S-CKO-10680
Gene Alias
A130099G21; GCF2; Tcf9
Background
C57BL/6JCya
NCBI ID
330361
Modification
Conditional knockout
Chromosome
6
Phenotype
MGI:2141656
Document
Click here to download >>
Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Gcfc2em1flox/Cya mice (Catalog S-CKO-10680) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000043195
NCBI RefSeq
NM_177884
Target Region
Exon 5
Size of Effective Region
~0.6 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Gcfc2, also known as C2orf3, has been associated with multiple biological aspects. While its exact function remains to be fully elucidated, it has been implicated in areas such as language-related functions, hippocampal volume, and potentially splicing processes [1,2,3]. It has been considered as a candidate gene in various genetic studies, suggesting its importance in normal biological processes and disease-related mechanisms.

Genetic studies in humans have found associations between Gcfc2 and certain traits and disorders. SNPs in the GCFC2 gene region were associated with hippocampal volume, a trait relevant to Alzheimer disease (AD) [3]. Additionally, in studies of developmental dyslexia and autism spectrum disorders (ASD), GCFC2 was among the genes investigated, indicating a possible link to language-related functions [2,4]. In myotonic dystrophy type 1 (DM1), GCFC2 was noted among genes of interest related to splicing, although its exact role in the context of DM1 spliceopathy was not fully detailed [1].

In conclusion, Gcfc2 appears to be involved in important biological functions related to language-related processes, hippocampal volume, and potentially splicing. Studies associating Gcfc2 with traits and disorders such as AD, developmental dyslexia, and ASD, and its consideration in DM1-related splicing research, contribute to our understanding of the gene's role in normal and disease-related biological processes.

References:
1. Dastidar, Sumitava, Majumdar, Debanjana, Tipanee, Jaitip, Chuah, Marinee K, VandenDriessche, Thierry. 2021. Comprehensive transcriptome-wide analysis of spliceopathy correction of myotonic dystrophy using CRISPR-Cas9 in iPSCs-derived cardiomyocytes. In Molecular therapy : the journal of the American Society of Gene Therapy, 30, 75-91. doi:10.1016/j.ymthe.2021.08.004. https://pubmed.ncbi.nlm.nih.gov/34371182/
2. Matsson, Hans, Huss, Mikael, Persson, Helena, Peyrard-Janvid, Myriam, Kere, Juha. 2015. Polymorphisms in DCDC2 and S100B associate with developmental dyslexia. In Journal of human genetics, 60, 399-401. doi:10.1038/jhg.2015.37. https://pubmed.ncbi.nlm.nih.gov/25877001/
3. Melville, Scott A, Buros, Jacqueline, Parrado, Antonio R, Saykin, Andrew J, Farrer, Lindsay A. 2012. Multiple loci influencing hippocampal degeneration identified by genome scan. In Annals of neurology, 72, 65-75. doi:10.1002/ana.23644. https://pubmed.ncbi.nlm.nih.gov/22745009/
4. Eicher, John D, Gruen, Jeffrey R. 2014. Language impairment and dyslexia genes influence language skills in children with autism spectrum disorders. In Autism research : official journal of the International Society for Autism Research, 8, 229-34. doi:10.1002/aur.1436. https://pubmed.ncbi.nlm.nih.gov/25448322/
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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