Dmd-Q995X(DBA/2.B6) Mouse
製品名
Dmd-Q995X(DBA/2.B6) Mouse
製品ID
C001773
系統名
DBA/2Cya-Dmdem1(Q995X)/Cya
背景情報
DBA/2Cya
状況
このマウス系統を論文で使用する場合は、「Dmd-Q995X(DBA/2.B6) Mouse（カタログ番号C001773）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
遺伝子名
遺伝子別名
dys, mdx, pke, Dp71, Dp427, DXSmh7, DXSmh9
NCBI ID
染色体
Chr X
MGI ID
さらに
系統詳細
Duchenne muscular dystrophy (DMD) is a severe, progressive, and debilitating X-linked disorder characterized by muscle wasting. This condition precipitates difficulties with movement, eventually necessitating assisted ventilation, and often leads to premature death. The primary cause of DMD is mutations in the dystrophin muscular dystrophy (DMD) gene, which encodes the dystrophin protein. These mutations effectively eliminate the production of dystrophin protein in muscle tissues, instigating muscle atrophy and a myriad of complications [1]. The absence of dystrophin protein culminates in the disintegration of the dystrophin-associated protein complex (DAPC) within the muscle membrane. This disintegration disrupts the interaction between actin and the extracellular matrix, rendering muscles devoid of dystrophin more susceptible to damage. This susceptibility results in the progressive loss of muscle tissue and function, as well as the development of cardiomyopathy [2].
Dmd-Q995X(DBA/2.B6) mice carry a c.2983C>T (p.Q995*) mutation in the Dmd gene, which introduces a premature termination codon (PTC) triggering nonsense-mediated mRNA decay (NMD) in eukaryotes. NMD degrades PTC-containing aberrant mRNAs to minimize gene expression errors, as these mRNAs may translate into harmful gain-of-function or dominant-negative proteins disrupting physiological mechanisms. The mutation combined with the murine NMD mechanism leads to the degradation of most Dmd transcripts in Dmd-Q995X(DBA/2.B6) mice, with remaining transcripts encoding nonfunctional truncated dystrophin, resulting in loss of dystrophin function [3-5]. Additionally, the inherent muscle regeneration dysfunction in the DBA/2 strain exacerbates myopathic phenotypes, including significant muscle atrophy, fibrosis, and pronounced muscle weakness, more accurately mimicking human DMD progression and severity [6]. This makes Dmd-Q995X(DBA/2.B6) mice, with their lack of functional dystrophin, ideal for modeling Duchenne muscular dystrophy (DMD) and evaluating therapeutic strategies.
参考文献
Duan D, Goemans N, Takeda S, Mercuri E, Aartsma-Rus A. Duchenne muscular dystrophy. Nat Rev Dis Primers. 2021 Feb 18;7(1):13.
Babbs A, Chatzopoulou M, Edwards B, Squire SE, Wilkinson IVL, Wynne GM, Russell AJ, Davies KE. From diagnosis to therapy in Duchenne muscular dystrophy. Biochem Soc Trans. 2020 Jun 30;48(3):813-821.
Hoffman EP, Brown RH Jr, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987 Dec 24;51(6):919-28.
Cox GA, Phelps SF, Chapman VM, Chamberlain JS. New mdx mutation disrupts expression of muscle and nonmuscle isoforms of dystrophin. Nat Genet. 1993 May;4(1):87-93.
Sicinski P, Geng Y, Ryder-Cook AS, Barnard EA, Darlison MG, Barnard PJ. The molecular basis of muscular dystrophy in the mdx mouse: a point mutation. Science. 1989 Jun 30;244(4912):1578-80.
Coley WD, Bogdanik L, Vila MC, Yu Q, Van Der Meulen JH, Rayavarapu S, Novak JS, Nearing M, Quinn JL, Saunders A, Dolan C, Andrews W, Lammert C, Austin A, Partridge TA, Cox GA, Lutz C, Nagaraju K. Effect of genetic background on the dystrophic phenotype in mdx mice. Hum Mol Genet. 2016 Jan 1;25(1):130-45.
系統作製戦略
The c.2983 C to T mutation was introduced into exon 23.
Figure 1. Gene editing strategy for Dmd-Q995X(DBA/2.B6) mice.
適用分野
Research into the pathogenic mechanisms of Duchenne Muscular Dystrophy (DMD);
Development, screening, and pharmacological evaluation of therapeutic drugs for DMD.
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