Col4a4-KO Mouse
一般名
Col4a4-KO
製品ID
S-KO-01580
背景情報
C57BL/6JCya
系統ID
KOCMP-12829-Col4a4-B6J-VA
状況
このマウス系統を論文で使用する場合は、「Col4a4-KO Mouse（カタログ番号S-KO-01580）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
Col4a4-KO
系統ID
KOCMP-12829-Col4a4-B6J-VA
遺伝子名
製品ID
S-KO-01580
遺伝子別名
[a]4(IV), E130010M05Rik
遺伝子別名
C57BL/6JCya
NCBI ID
修正
Conventional knockout
染色体
Chr 1
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
ENSMUST00000087050
NCBIトランスクリプトID
NM_007735
ターゲット領域
Exon 5~19
有効領域の大きさ
~17.5 kb
遺伝子研究の概要
Col4a4, encoding the α4 chain of type IV collagen, is crucial as type IV collagen is a major component of the glomerular basement membrane (GBM) [1,2,3,5,6,8,9]. It is involved in maintaining the structure and function of the GBM, which is essential for kidney filtration. Mutations in Col4a4 can disrupt the normal assembly of type IV collagen in the GBM, affecting its integrity and leading to various kidney-related diseases [1,2,3,5,6,8,9].
Mutations in Col4a4 are associated with autosomal recessive and autosomal dominant Alport syndrome [2,3,5,6,9]. In autosomal recessive Alport syndrome, two pathogenic mutations in Col4a4 can lead to progressive renal failure, hearing loss, and ocular abnormalities [2]. Heterozygous pathogenic Col4a4 variants (autosomal dominant Alport syndrome) are common, and while they are not typically associated with end-stage kidney failure, hearing loss, or ocular abnormalities, affected individuals still have a higher risk of impaired kidney function compared to the general population [3]. In sporadic IgA nephropathy patients with thinned GBM lesions, diagnostic variants of Col4a4 were identified, and patients with these variants had different disease features such as higher proportions of GBM thickness <250 nm and milder glomerular injury [1].
In conclusion, Col4a4 is essential for the proper structure and function of the GBM. Studies on Col4a4-related mutations in mouse models, although not detailed in the provided abstracts but inferred from the human-disease associations, would likely help understand its role in Alport syndrome and IgA nephropathy. Understanding Col4a4 function and its mutations contributes to diagnosing and potentially treating these kidney-related diseases [1,2,3,5,6,9].
References:
1. Yuan, Xiaohan, Su, Qing, Wang, Hui, Zhu, Li, Zhang, Hong. 2022. Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients. In Journal of the American Society of Nephrology : JASN, 34, 132-144. doi:10.1681/ASN.2021111447. https://pubmed.ncbi.nlm.nih.gov/36130833/
2. Storey, Helen, Savige, Judy, Sivakumar, Vanessa, Abbs, Stephen, Flinter, Frances A. 2013. COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. In Journal of the American Society of Nephrology : JASN, 24, 1945-54. doi:10.1681/ASN.2012100985. https://pubmed.ncbi.nlm.nih.gov/24052634/
3. Savige, Judy. 2022. Heterozygous Pathogenic COL4A3 and COL4A4 Variants (Autosomal Dominant Alport Syndrome) Are Common, and Not Typically Associated With End-Stage Kidney Failure, Hearing Loss, or Ocular Abnormalities. In Kidney international reports, 7, 1933-1938. doi:10.1016/j.ekir.2022.06.001. https://pubmed.ncbi.nlm.nih.gov/36090501/
4. Savige, Judy, Lipska-Zietkiewicz, Beata S, Watson, Elizabeth, Storey, Helen, Flinter, Frances. 2021. Guidelines for Genetic Testing and Management of Alport Syndrome. In Clinical journal of the American Society of Nephrology : CJASN, 17, 143-154. doi:10.2215/CJN.04230321. https://pubmed.ncbi.nlm.nih.gov/34930753/
5. Savige, Judy, Renieri, Alessandra, Ars, Elisabet, Lipska-Zietkiewicz, Beata, Gibson, Joel T. 2022. Digenic Alport Syndrome. In Clinical journal of the American Society of Nephrology : CJASN, 17, 1697-1706. doi:10.2215/CJN.03120322. https://pubmed.ncbi.nlm.nih.gov/35675912/
6. Kashtan, Clifford E. 2020. Alport Syndrome: Achieving Early Diagnosis and Treatment. In American journal of kidney diseases : the official journal of the National Kidney Foundation, 77, 272-279. doi:10.1053/j.ajkd.2020.03.026. https://pubmed.ncbi.nlm.nih.gov/32712016/
7. Deng, Haiyue, Zhang, Yanqin, Ding, Jie, Wang, Fang. 2022. Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing. In Frontiers in medicine, 9, 838983. doi:10.3389/fmed.2022.838983. https://pubmed.ncbi.nlm.nih.gov/35386907/
8. Naylor, Richard W, Morais, Mychel R P T, Lennon, Rachel. 2020. Complexities of the glomerular basement membrane. In Nature reviews. Nephrology, 17, 112-127. doi:10.1038/s41581-020-0329-y. https://pubmed.ncbi.nlm.nih.gov/32839582/
9. Gregorio, Vanessa De, Caparali, Emine Bilge, Shojaei, Azadeh, Ricardo, Samantha, Barua, Moumita. 2023. Alport Syndrome: Clinical Spectrum and Therapeutic Advances. In Kidney medicine, 5, 100631. doi:10.1016/j.xkme.2023.100631. https://pubmed.ncbi.nlm.nih.gov/37122389/
品質管理基準
精子検査
凍結前の精子濃度を測定し、精子の生存能力の判定します。
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。
環境基準:
SPF対応地域:
グローバル由来:
Cyagenお問い合わせ
カスタムの動物モデルに関するご相談は、下記のフォームにご記入いただき、ご連絡いただくか見積もりをご依頼ください。
Cyagenはお客様のプライバシーを大変重視しています。当社の最新の製品や情報をお届けしたいと思っています。お客様の設定をご確認ください。
これらの配信はいつでも解除できます。配信停止方法およびデータ保護の詳細は プライバシーポリシー をご確認ください。
以下のボタンをクリックすることで、このフォームにご入力いただいた個人情報をCyagenが保存・処理し、ご要望のコンテンツを提供することに同意されたことになります。