Efhc2-flox Mouse
一般名
Efhc2-flox
製品ID
S-CKO-15992
背景情報
C57BL/6JCya
系統ID
CKOCMP-74405-Efhc2-B6J-VA
状況
このマウス系統を論文で使用する場合は、「Efhc2-flox Mouse（カタログ番号S-CKO-15992）はサイアジェンから購入しました。」と引用してください。
製品タイプ
年齢
遺伝子型
性別
数量
標準的な配送方法では、少なくとも3匹のヘテロ接合体キャリアを保証しています。ホモ接合体キャリアや指定された性別の個体の繁殖サービスも利用可能です。
基本情報
系統名
Efhc2-flox
系統ID
CKOCMP-74405-Efhc2-B6J-VA
遺伝子名
製品ID
S-CKO-15992
遺伝子別名
mRib72-2, 4933407D04Rik
遺伝子別名
C57BL/6JCya
NCBI ID
修正
Conditional knockout
染色体
Chr X
表現型
アプリケーション
--
さらに
系統詳細
EnsemblトランスクリプトID
ENSMUST00000026014
NCBIトランスクリプトID
NM_028916
ターゲット領域
Exon 4
有効領域の大きさ
~1.5 kb
遺伝子研究の概要
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/
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凍結後の精子では、各バッチから1本の凍結保存された精子を選び出し、体外受精に使用します。
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