C57BL/6JCya-Efhc2em1flox/Cya
Common Name:
Efhc2-flox
Product ID:
S-CKO-15992
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Efhc2-flox
Strain ID
CKOCMP-74405-Efhc2-B6J-VA
Gene Name
Product ID
S-CKO-15992
Gene Alias
4933407D04Rik; mRib72-2
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
X
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Efhc2em1flox/Cya mice (Catalog S-CKO-15992) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000026014
NCBI RefSeq
NM_028916
Target Region
Exon 4
Size of Effective Region
~1.5 kb
Detailed Document
Overview of Gene Research
Efhc2, or EF-hand domain containing 2, is a gene with one predicted calcium-binding EF-hand motif and three DM10 domains. Its function was once unknown, but it has been implicated in regulating nephron segmentation in zebrafish [4]. It may also be involved in various biological processes related to the central nervous system as it has been associated with several brain-related genetic diseases [4].
In a study of 1589 patients undergoing clinical exome sequencing, EFHC2 was identified as one of seven candidate genes not yet associated with human diseases [1]. In zebrafish, morpholino antisense oligonucleotide-mediated knock-down of Efhc2 led to defects in pronephros development and function, with expansion of the distal early segment and reduction of the corpuscle of stannius and distal late segments, as well as a decrease in multi-ciliated cells [4].
Some research on its association with human diseases shows mixed results. For example, one study found no evidence of an association between EFHC2 SNP rs7055196 and fear recognition in 45,X Turner syndrome, while another study reported that males with the G allele of this SNP had poorer facial fear detection accuracy and theory of mind abilities [2,5]. Additionally, studies on the relation between EFHC2 gene polymorphism and idiopathic generalized epilepsy in a Turkish population found no relation, but a tentative association was found between an amino acid exchange in EFHC2 and male juvenile myoclonic epilepsy patients in a German sample [3,6].
In conclusion, Efhc2 plays a crucial role in the distal segmentation of the pronephros in zebrafish, providing insights into its function in vertebrate development [4]. In human studies, its association with various brain-related diseases such as Turner syndrome, idiopathic generalized epilepsy, and social cognitive abilities is being investigated, though results are currently inconsistent. Research on Efhc2 helps in understanding the genetic basis of these conditions and potentially developing new diagnostic and treatment strategies.
References：
1. Gorukmez, Ozlem, Gorukmez, Orhan, Topak, Ali. 2023. Clinical exome sequencing findings in 1589 patients. In American journal of medical genetics. Part A, 191, 1557-1564. doi:10.1002/ajmg.a.63190. https://pubmed.ncbi.nlm.nih.gov/36964972/
2. Zinn, Andrew R, Kushner, Harvey, Ross, Judith L. . EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome. In American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 147B, 507-9. doi:. https://pubmed.ncbi.nlm.nih.gov/17948898/
3. Berrin, Tuğrul, Hikmet, Yılmaz, Gülşen, Vatandaş, Erdal, Balcan, Ece, Onur. . No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy. In African health sciences, 15, 1204-10. doi:10.4314/ahs.v15i4.20. https://pubmed.ncbi.nlm.nih.gov/26958022/
4. Barrodia, Praveen, Patra, Chinmoy, Swain, Rajeeb K. 2018. EF-hand domain containing 2 (Efhc2) is crucial for distal segmentation of pronephros in zebrafish. In Cell & bioscience, 8, 53. doi:10.1186/s13578-018-0253-z. https://pubmed.ncbi.nlm.nih.gov/30349665/
5. Startin, Carla M, Fiorentini, Chiara, de Haan, Michelle, Skuse, David H. 2015. Variation in the X-linked EFHC2 gene is associated with social cognitive abilities in males. In PloS one, 10, e0131604. doi:10.1371/journal.pone.0131604. https://pubmed.ncbi.nlm.nih.gov/26107779/
6. Gu, Wenli, Sander, Thomas, Heils, Armin, Lenzen, Kirsten P, Steinlein, Ortrud K. . A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy. In Epilepsy research, 66, 91-8. doi:. https://pubmed.ncbi.nlm.nih.gov/16112844/
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