C57BL/6JCya-Ccdc88cem1flox/Cya
Common Name:
Ccdc88c-flox
Product ID:
S-CKO-18818
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Ccdc88c-flox
Strain ID
CKOCMP-68339-Ccdc88c-B6J-VB
Gene Name
Product ID
S-CKO-18818
Gene Alias
0610010D24Rik; Daple; mKIAA1509
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
12
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ccdc88cem1flox/Cya mice (Catalog S-CKO-18818) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000068411
NCBI RefSeq
NM_026681
Target Region
Exon 5~10
Size of Effective Region
~5.8 kb
Detailed Document
Overview of Gene Research
CCDC88C, encoding coiled-coil domain containing 88C, is essential for cell communication during neural development. It is a component of non-canonical Wnt signaling and may be involved in processes like neuronal migration [1,2,3,4].
Pathogenic variants in CCDC88C have been linked to multiple disorders. In neural development, it is associated with congenital hydrocephalus, some cases accompanied by seizures. De novo and biallelic CCDC88C variants were identified in patients with focal epilepsy, showing genotype-phenotype correlations [1]. In breast cancer, it drives metastasis by promoting c-JUN-mediated CEMIP transcription and is an O-GalNAc glycosylation substrate of GALNT6 [2]. It has also been associated with spinocerebellar ataxia, early-onset pure spastic paraplegia, and is a rare cause of severe congenital hydrocephalus [5,6,7].
In conclusion, CCDC88C plays a crucial role in neural development and is associated with various diseases such as epilepsy, breast cancer metastasis, spinocerebellar ataxia, and congenital hydrocephalus. Understanding its function through studies on its variants provides insights into the molecular mechanisms underlying these diseases.
References:
1. Chen, Yu-Jie, Wang, Wen-Jie, Zou, Dong-Fang, Li, Bin, Chen, Yong-Jun. 2024. CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation. In Clinical genetics, 105, 397-405. doi:10.1111/cge.14476. https://pubmed.ncbi.nlm.nih.gov/38173219/
2. Deng, Boya, Zhang, Siyang, Zhou, Yingying, Li, Ailin, Miao, Yuan. 2024. CCDC88C, an O-GalNAc glycosylation substrate of GALNT6, drives breast cancer metastasis by promoting c-JUN-mediated CEMIP transcription. In Cancer cell international, 24, 237. doi:10.1186/s12935-024-03413-2. https://pubmed.ncbi.nlm.nih.gov/38971758/
3. Wainberg, Michael, Forde, Natalie J, Mansour, Salim, Hawco, Colin, Tripathy, Shreejoy J. 2024. Genetic architecture of the structural connectome. In Nature communications, 15, 1962. doi:10.1038/s41467-024-46023-2. https://pubmed.ncbi.nlm.nih.gov/38438384/
4. Marguet, Florent, Vezain, Myriam, Marcorelles, Pascale, Laquerriere, Annie, Saugier-Veber, Pascale. 2021. Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants. In Acta neuropathologica communications, 9, 104. doi:10.1186/s40478-021-01207-5. https://pubmed.ncbi.nlm.nih.gov/34092257/
5. Chai, Senmao, Liu, Deyang, Liu, Yajing, Sang, Ming. 2023. A Novel c.3636-4 A>G Mutation in the CCDC88C Plays a Causative Role in Familial Spinocerebellar Ataxia. In Human heredity, 88, 91-97. doi:10.1159/000534692. https://pubmed.ncbi.nlm.nih.gov/37899026/
6. Caputo, Donatella, Cetica, Valentina, Paoli, Silvia, Rosati, Anna, Lazzeri, Simone. 2023. Confirmation of the Pathogenetic Role of the CCDC88C Gene in Early-Onset Pure Spastic Paraplegia. In Movement disorders : official journal of the Movement Disorder Society, 38, 1561-1562. doi:10.1002/mds.29459. https://pubmed.ncbi.nlm.nih.gov/37317935/
7. Ruggeri, Gaia, Timms, Andrew E, Cheng, Chi, Tully, Hannah, Mirzaa, Ghayda M. 2018. Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus. In American journal of medical genetics. Part A, 176, 676-681. doi:10.1002/ajmg.a.38592. https://pubmed.ncbi.nlm.nih.gov/29341397/
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