C57BL/6JCya-Ccdc32em1flox/Cya
Common Name:
Ccdc32-flox
Product ID:
S-CKO-09782
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Ccdc32-flox
Strain ID
CKOCMP-269336-Ccdc32-B6J-VA
Gene Name
Product ID
S-CKO-09782
Gene Alias
Gm631
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
2
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ccdc32em1flox/Cya mice (Catalog S-CKO-09782) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000036470
NCBI RefSeq
NM_199310
Target Region
Exon 3
Size of Effective Region
~2.0 kb
Detailed Document
Overview of Gene Research
CCDC32, also known as C15orf57, is an endocytic accessory protein with a significant role in clathrin-mediated endocytosis (CME), a process essential for maintaining cellular homeostasis [1]. It is also involved in the assembly of the AP2 adaptor complex, a key player in CME [2].
Loss-of-function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac, and neurodevelopmental anomalies. Zebrafish models with ccdc32 depletion recapitulate human phenotypes, and ccdc32 is required for normal cilia formation in zebrafish embryos and mammalian cell culture, suggesting ciliary defects contribute to the disorder's pathomechanism [3]. In patients with cardio-facio-neuro-developmental syndrome (CFNDS), homozygous loss-of-function variants in CCDC32 have been identified, and ccdc32 deletion in zebrafish implies a ciliary contribution to the pathomechanism [4]. A novel homozygous deletion in CCDC32 gene was also reported to cause CFNDS [5]. Additionally, CCDC32 gene fusions, such as CCDC32-CBX3, were found in MYCN non-amplified neuroblastoma and acute myeloid leukemia patients, affecting gene expression and potentially contributing to treatment resistance [6,7]. CCDC32 was also identified as a new gene with potential biological relevance to colorectal cancer through gene-gene interaction studies [8], and it was found to interact with the C-terminal fragment of annexin A2 in yeast two-hybrid screening [9].
In summary, CCDC32 is crucial for clathrin-mediated endocytosis and AP2 adaptor complex assembly. Its loss-of-function mutations lead to severe congenital syndromes involving craniofacial, cardiac, and neurodevelopmental anomalies. The use of zebrafish models has been instrumental in understanding its role in these disease conditions. Studies on gene fusions and interactions of CCDC32 also suggest its potential involvement in various cancers, highlighting its significance in multiple biological processes and disease areas.
References:
1. Yang, Ziyan, Yang, Changsong, Huang, Zheng, Schmid, Sandra L, Chen, Zhiming. 2025. CCDC32 stabilizes clathrin-coated pits and drives their invagination. In bioRxiv : the preprint server for biology, , . doi:10.1101/2024.06.26.600785. https://pubmed.ncbi.nlm.nih.gov/38979322/
2. Wan, Chun, Puscher, Harrison, Ouyang, Yan, Yin, Qian, Shen, Jingshi. 2024. An AAGAB-to-CCDC32 handover mechanism controls the assembly of the AP2 adaptor complex. In Proceedings of the National Academy of Sciences of the United States of America, 121, e2409341121. doi:10.1073/pnas.2409341121. https://pubmed.ncbi.nlm.nih.gov/39145939/
3. Harel, Tamar, Griffin, John N, Arbogast, Thomas, Elpeleg, Orly, Katsanis, Nicholas. . Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies. In Human molecular genetics, 29, 1489-1497. doi:10.1093/hmg/ddaa073. https://pubmed.ncbi.nlm.nih.gov/32307552/
4. Abdalla, Ebtesam, Alawi, Malik, Meinecke, Peter, Kutsche, Kerstin, Harms, Frederike L. 2022. Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype. In American journal of medical genetics. Part A, 188, 2448-2453. doi:10.1002/ajmg.a.62762. https://pubmed.ncbi.nlm.nih.gov/35451546/
5. Fernandes da Rocha, Diogo, Quental, Rita, Grangeia, Ana, Pinto Moura, Carla. 2024. A novel homozygous deletion in CCDC32 gene causing cardiofacioneurodevelopmental syndrome: the fourth patient reported. In Clinical dysmorphology, 33, 114-117. doi:10.1097/MCD.0000000000000501. https://pubmed.ncbi.nlm.nih.gov/38818818/
6. Lee, Eunjin, Lee, Ji Won, Lee, Boram, Sung, Ki Woong, Park, Woong-Yang. 2020. Genomic profile of MYCN non-amplified neuroblastoma and potential for immunotherapeutic strategies in neuroblastoma. In BMC medical genomics, 13, 171. doi:10.1186/s12920-020-00819-5. https://pubmed.ncbi.nlm.nih.gov/33172452/
7. Xu, Yi, Li, Shengwen Calvin, Xiao, Jeffrey, Cao, Huynh, Zhong, Jiang F. 2025. Exploring treatment-driven subclonal evolution of prognostic triple biomarkers: Dual gene fusions and chimeric RNA variants in novel subtypes of acute myeloid leukemia patients with KMT2A rearrangement. In Drug resistance updates : reviews and commentaries in antimicrobial and anticancer chemotherapy, 79, 101199. doi:10.1016/j.drup.2024.101199. https://pubmed.ncbi.nlm.nih.gov/39823827/
8. Kafaie, Somayeh, Xu, Ling, Hu, Ting. 2020. Statistical methods with exhaustive search in the identification of gene-gene interactions for colorectal cancer. In Genetic epidemiology, 45, 222-234. doi:10.1002/gepi.22372. https://pubmed.ncbi.nlm.nih.gov/33231893/
9. Li, Qun, Laumonnier, Yves, Syrovets, Tatiana, Simmet, Thomas. 2011. Yeast two-hybrid screening of proteins interacting with plasmin receptor subunit: C-terminal fragment of annexin A2. In Acta pharmacologica Sinica, 32, 1411-8. doi:10.1038/aps.2011.121. https://pubmed.ncbi.nlm.nih.gov/21963895/
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