Logo
Homepage
Explore Our Models
My Cart
Contact
Subscribe
Models
Genetically Engineered Animals
Knockout Mice
Knockout Rats
Knockin Mice
Knockin Rats
Transgenic Mice
Transgenic Rats
Model Generation Techniques
Turboknockout<sup>®</sup> Gene Targeting
ES Cell Gene Targeting
Targeted Gene Editing
Regular Transgenic
PiggyBac Transgenesis
BAC Transgenic
Research Models
HUGO-GT™ Humanized Mice
Cre Mouse Lines
Humanized Target Gene Models
Metabolic Disease Models
Ophthalmic Disease Models
Neurological Disease Models
Autoimmune Disease Models
Immunodeficient Mouse Models
Humanized Immune System Mouse Models
Oncology & Immuno-oncology Models
Covid-19 Mouse Models
MouseAtlas Model Library
Knockout Cell Line Product Catalog
Tumor Cell Line Product Catalog
AAV Standard Product Catalog
Animal Supporting Services
Breeding Services
Cryopreservation & Recovery
Phenotyping Services
BAC Modification
Custom Cell Line Models
Induced Pluripotent Stem Cells (iPSCs)
Knockout Cell Lines
Knockin Cell Lines
Point Mutation Cell Lines
Overexpression Cell Lines
Virus Packaging
Adeno-associated Virus (AAV) Packaging
Lentivirus Packaging
Adenovirus Packaging
CRO Services
By Therapeutic Area
Oncology
Ophthalmology
Neuroscience
Metabolic & Cardiovascular Diseases
Autoimmune & Inflammatory
By Drug Type
AI-Powered AAV Discovery
Gene Therapy
Oligonucleotide Therapy
Antibody Therapy
Cell Immunotherapy
Resources
Promotion
Events & Webinars
Newsroom
Blogs & Insights
Resource Vault
Reference Databases
Peer-Reviewed Citations
Rare Disease Data Center
AbSeek
Cell iGeneEditor™ System
OriCell
Quality
Facility Overview
Animal Health & Welfare
Health Reports
About Us
Corporate Overview
Our Partners
Careers
Contact Us
Login
Request a Product Quote
Select products from our catalogs and submit your request. Our team will get back to you with detailed information.
Full Name
Email
Phone Number
Organization
Job Role
Country
Catalog Type
Product Name
Additional Comments
Cyagen values your privacy. We’d like to keep you informed about our latest offerings and insights. Your preferences:
You may unsubscribe from these communications at any time. See our Privacy Policy for details on opting out and data protection.
By clicking the button below, you consent to allow Cyagen to store and process the personal information submitted in this form to provide you the content requested.
C57BL/6JCya-Ccdc32em1flox/Cya
Common Name:
Ccdc32-flox
Product ID:
S-CKO-09782
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Ccdc32-flox
Strain ID
CKOCMP-269336-Ccdc32-B6J-VA
Gene Name
Ccdc32
Product ID
S-CKO-09782
Gene Alias
Gm631
Background
C57BL/6JCya
NCBI ID
269336
Modification
Conditional knockout
Chromosome
2
Phenotype
MGI:2685477
Document
Click here to download >>
Application
--
More
Rare Disease Data Center >>
Note
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
Click here to download >>
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
Model Library
Model Library
Resources
Resources
Animal Quality
Animal Quality
Get Support
Get Support
Address:
2255 Martin Avenue, Suite E Santa Clara, CA 95050-2709, US
Tel:
800-921-8930 (8-6pm PST)
+1408-963-0306 (lnt’l)
Fax:
408-969-0338
Email:
animal-service@cyagen.com
service@cyagen.us
CRO Services
OncologyOphthalmologyNeuroscienceMetabolic & CardiovascularAutoimmune & InflammatoryGene TherapyAntibody Therapy
About Us
Corporate OverviewOur PartnersCareersContact Us
Social Media
Disclaimer: Pricing and availability of our products and services vary by region. Listed prices are applicable to the specific countries. Please contact us for more information.
Copyright © 2025 Cyagen. All rights reserved.
Privacy Policy
Site Map
Stay Updated with the Latest from Cyagen
Get the latest news on our research models, CRO services, scientific resources, and special offers—tailored to your research needs and delivered straight to your inbox.
Full Name
Email
Organization
Country
Areas of Interest