DMD-Q995*
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Strain Description
DMD-Q995* mice carry a c.2983C>T (p.Q995) mutation in the Dmd gene, which results in the production of a premature termination codon (PTC). In eukaryotes, the nonsense-mediated mRNA decay (NMD) pathway degrades mRNAs containing PTCs to reduce errors in gene expression. These abnormal mRNAs may encode harmful gain-of-function or dominant-negative proteins that can damage normal human physiological mechanisms. In DMD-Q995* mice, the mutation and the NMD pathway together result in the degradation of most Dmd transcripts. The remaining transcripts can only encode truncated dystrophin proteins that lack normal function, leading to the loss of dystrophin function [3-5]. This model, due to the lack of normal dystrophin expression, exhibits a series of muscle disease phenotypes similar to the clinical presentation of Duchenne muscular dystrophy (DMD), and can be used for research on DMD. Homozygous female mice and heterozygous males of this strain are viable and fertile.
Application Area
This model is a valuable tool for studying the mechanisms of DMD and for screening potential therapeutic agents
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