C57BL/6JCya-Celsr1em1flox/Cya
Common Name:
Celsr1-flox
Product ID:
S-CKO-01698
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Celsr1-flox
Strain ID
CKOCMP-12614-Celsr1-B6J-VA
Gene Name
Product ID
S-CKO-01698
Gene Alias
Adgrc1; Crsh; Scy; crash
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
15
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Celsr1em1flox/Cya mice (Catalog S-CKO-01698) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000016172
NCBI RefSeq
NM_009886
Target Region
Exon 3
Size of Effective Region
~0.7 kb
Detailed Document
Overview of Gene Research
CELSR1, short for cadherin EGF LAG seven-pass G-type receptor 1, is an atypical cadherin that belongs to the adhesion GPCR family. It plays multiple essential functions in epithelia and the nervous system, with a key role in epithelial planar cell polarity (PCP) [1,3]. It is also involved in neurodevelopment as it is mainly expressed in neural stem cells during the embryonic period [2].
In mouse models, Celsr1 mutants have provided insights into its functions. For instance, in Celsr1-deficient mice, facial branchiomotor neurons inappropriately migrate rostrally, indicating that Celsr1 suppresses Wnt5a-mediated chemoattraction to prevent incorrect neuron migration [4]. Also, knockout of Celsr1 alone abolishes epidermal PCP, showing its major role in this process compared to Celsr2 [5]. In addition, CELSR1 variants identified in human studies are associated with partial epilepsy of childhood, suggesting its potential as a candidate pathogenic gene [2]. In congenital heart disease, CELSR1 is a susceptibility gene for familial bicuspid aortic valve and hypoplastic left heart syndrome, implicating PCP pathway perturbation [6].
In conclusion, CELSR1 is crucial for PCP and neurodevelopment. Mouse knockout models have been instrumental in revealing its role in neuronal migration. Its association with diseases such as epilepsy and congenital heart disease from human genetic studies further emphasizes its importance in understanding disease mechanisms.
References:
1. Goffinet, Andre M, Tissir, Fadel. 2017. Seven pass Cadherins CELSR1-3. In Seminars in cell & developmental biology, 69, 102-110. doi:10.1016/j.semcdb.2017.07.014. https://pubmed.ncbi.nlm.nih.gov/28716607/
2. Chen, Zheng, Luo, Sheng, Liu, Zhi-Gang, Bian, Wen-Jun, Liao, Wei-Ping. 2022. CELSR1 variants are associated with partial epilepsy of childhood. In American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 189, 247-256. doi:10.1002/ajmg.b.32916. https://pubmed.ncbi.nlm.nih.gov/36453712/
3. Boutin, Camille, Goffinet, André M, Tissir, Fadel. . Celsr1-3 cadherins in PCP and brain development. In Current topics in developmental biology, 101, 161-83. doi:10.1016/B978-0-12-394592-1.00010-7. https://pubmed.ncbi.nlm.nih.gov/23140629/
4. Hummel, Devynn, Becks, Alexandria, Men, Hongsheng, Glasco, Derrick M, Chandrasekhar, Anand. 2022. Celsr1 suppresses Wnt5a-mediated chemoattraction to prevent incorrect rostral migration of facial branchiomotor neurons. In Development (Cambridge, England), 149, . doi:10.1242/dev.200553. https://pubmed.ncbi.nlm.nih.gov/36325991/
5. Basta, Lena P, Sil, Parijat, Jones, Rebecca A, Hayward-Lara, Gabriela, Devenport, Danelle. 2023. Celsr1 and Celsr2 exhibit distinct adhesive interactions and contributions to planar cell polarity. In Frontiers in cell and developmental biology, 10, 1064907. doi:10.3389/fcell.2022.1064907. https://pubmed.ncbi.nlm.nih.gov/36712970/
6. Theis, Jeanne L, Niaz, Talha, Sundsbak, Rhianna S, Hagler, Donald J, Olson, Timothy M. 2022. CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome. In Circulation. Genomic and precision medicine, 15, e003523. doi:10.1161/CIRCGEN.121.003523. https://pubmed.ncbi.nlm.nih.gov/35133174/
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