Efhc2-flox Mouse
Common Name
Efhc2-flox
제품 ID
S-CKO-15992
Backgroud
C57BL/6JCya
품종 계통계통 ID
CKOCMP-74405-Efhc2-B6J-VA
상태
이 마우스 계통을 논문에서 사용할 경우, “Efhc2-flox Mouse (카탈로그 번호 S-CKO-15992)은 Cyagen에서 구입하였습니다.”라고 명시해 주시기 바랍니다.
구매 가능한 제품 종류
연령
Genotype
성별
수량
표준 제공 조건은 최소 3마리의 이형접합(heterozygous) 보균자를 보장합니다. 동형접합(homozygous) 보균자 및/또는 특정 성별에 대한 브리딩 서비스도 제공됩니다.
기본 정보
품종 계통
Efhc2-flox
품종 계통계통 ID
CKOCMP-74405-Efhc2-B6J-VA
유전자명
제품 ID
S-CKO-15992
유전자 별칭
mRib72-2, 4933407D04Rik
배경
C57BL/6JCya
NCBI ID
변형 내용
Conditional knockout
염색체
Chr X
Phenotype
Datasheet
적용 분야
--
품종 계통 설명
Ensembl 전사체 ID
ENSMUST00000026014
NCBI 전사체 ID
NM_028916
타겟 영역
Exon 4
유효 영역 크기
~1.5 kb
유전자 연구 개요
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/
품질 관리 기준
정자 검사
동결 보존 전: 정자 농도 측정 및 정자 생존율 평가.
동결 보존 후: 각 배치에서 동결 보존된 정자 바이알 1개를 선택하여 체외수정(in vitro fertilization)에 사용합니다.
Environmental Standards:
SPFAvailable Region:
GlobalSource:
Cyagen문의하기
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