C57BL/6JCya-Cc2d1aem1flox/Cya
Common Name:
Cc2d1a-flox
Product ID:
S-CKO-18758
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Cc2d1a-flox
Strain ID
CKOCMP-212139-Cc2d1a-B6J-VB
Gene Name
Product ID
S-CKO-18758
Gene Alias
Freud-1; Tape
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
8
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Cc2d1aem1flox/Cya mice (Catalog S-CKO-18758) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000040383
NCBI RefSeq
NM_145970
Target Region
Exon 7~14
Size of Effective Region
~3.9 kb
Detailed Document
Overview of Gene Research
Cc2d1a, also known as Freud-1, belongs to a gene family with conserved domains including DM14, a C-terminal helix-loop-helix domain, and a C2 calcium-dependent phospholipid binding domain. It functions as a transcriptional repressor of the serotonin-1A receptor gene and is involved in regulating multiple intracellular signaling pathways, with a particularly strong effect on the NF-κB pathway [4,8]. It also regulates the degradation and signaling of transmembrane receptors like EGFR and TLR4 by interacting with components of the ESCRT-III complex [7].
In gene knockout studies, conditional deletion of Cc2d1a in glutamatergic neurons of mice led to autistic-like features, such as self-injurious repetitive grooming, aberrant social interactions, decreased complexity of apical dendritic arbors, and an increased synaptic excitation/inhibition ratio [2]. Heterozygous Cc2d1a mice showed sex-dependent changes in autophagy markers in the hippocampus and prefrontal cortex, with an overall decrease in autophagy and alterations in the Beclin-1/p62 ratio [3]. Conditional deletion from excitatory neurons of the male mouse forebrain impaired hippocampal synaptic plasticity, cognitive function, and led to anxiety-like behavior, which was related to enhanced basal Rac1 activity [5]. Cc2d1a deletion in male mice also increased irritability-like behavior, associated with reduced oxytocin-expressing neurons in the hypothalamus, and this behavior could be rescued by oxytocin-related treatments [6]. In Xenopus, Drosophila, and patient-derived fibroblasts, loss of cc2d1a led to cardiac heterotaxy, cystic kidneys, and abnormal CSF circulation via defective ciliogenesis [1].
In conclusion, Cc2d1a plays essential roles in neurodevelopment, ciliogenesis, and autophagy. Studies using Cc2d1a KO/CKO mouse models have revealed its significance in various disease conditions, including autism-related disorders, intellectual disability, and ciliopathies. These models have provided valuable insights into the molecular mechanisms underlying these diseases, highlighting the potential of Cc2d1a as a therapeutic target.
References:
1. Kim, Angelina Haesoo, Sakin, Irmak, Viviano, Stephen, Temel, Sehime G, Deniz, Engin. 2024. CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow. In Life science alliance, 7, . doi:10.26508/lsa.202402708. https://pubmed.ncbi.nlm.nih.gov/39168639/
2. Yang, Cheng-Yi, Hung, Yu-Chieh, Cheng, Kuan-Hsiang, Ling, Pin, Hsu, Kuei-Sen. 2021. Loss of CC2D1A in Glutamatergic Neurons Results in Autistic-Like Features in Mice. In Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 18, 2021-2039. doi:10.1007/s13311-021-01072-z. https://pubmed.ncbi.nlm.nih.gov/34132974/
3. Sener, Elif Funda, Dana, Halime, Tahtasakal, Reyhan, Ozkul, Yusuf, Rassoulzadegan, Minoo. 2023. Heterozygous Cc2d1a mice show sex-dependent changes in the Beclin-1/p62 ratio with impaired prefrontal cortex and hippocampal autophagy. In Progress in neuro-psychopharmacology & biological psychiatry, 125, 110764. doi:10.1016/j.pnpbp.2023.110764. https://pubmed.ncbi.nlm.nih.gov/37059290/
4. Rogaeva, Anastasia, Galaraga, Kimberly, Albert, Paul R. . The Freud-1/CC2D1A family: transcriptional regulators implicated in mental retardation. In Journal of neuroscience research, 85, 2833-8. doi:. https://pubmed.ncbi.nlm.nih.gov/17394259/
5. Yang, Cheng-Yi, Yu, Ting-Hsuan, Wen, Wan-Ling, Ling, Pin, Hsu, Kuei-Sen. 2019. Conditional Deletion of CC2D1A Reduces Hippocampal Synaptic Plasticity and Impairs Cognitive Function through Rac1 Hyperactivation. In The Journal of neuroscience : the official journal of the Society for Neuroscience, 39, 4959-4975. doi:10.1523/JNEUROSCI.2395-18.2019. https://pubmed.ncbi.nlm.nih.gov/30992372/
6. Cheng, Kuan-Hsiang, Hung, Yu-Chieh, Ling, Pin, Hsu, Kuei-Sen. 2024. Oxytocin treatment rescues irritability-like behavior in Cc2d1a conditional knockout mice. In Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology, 49, 1792-1802. doi:10.1038/s41386-024-01920-4. https://pubmed.ncbi.nlm.nih.gov/39014123/
7. Deshar, Rakesh, Cho, Eun-Bee, Yoon, Sungjoo Kim, Yoon, Jong-Bok. 2016. CC2D1A and CC2D1B regulate degradation and signaling of EGFR and TLR4. In Biochemical and biophysical research communications, 480, 280-287. doi:10.1016/j.bbrc.2016.10.053. https://pubmed.ncbi.nlm.nih.gov/27769858/
8. Manzini, M Chiara, Xiong, Lan, Shaheen, Ranad, Alkuraya, Fowzan S, Walsh, Christopher A. 2014. CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis. In Cell reports, 8, 647-55. doi:10.1016/j.celrep.2014.06.039. https://pubmed.ncbi.nlm.nih.gov/25066123/
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