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DMD-Q995*
Product ID:
C001518
Background:
C57BL/6JCya
Documents:
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Basic Information
Model Name
DMD-Q995*
Product ID
C001518
Gene Name
Dmd
Background
C57BL/6JCya
Gene Alias
dys; mdx; pke; Dp71; Dp427; DXSmh7; DXSmh9
Classification
Neurological Disease Models,Rare Disease Models
NCBI ID
13405
Phenotype
MGI:94909
Chromosome
X
More
Rare Disease Data Center >>
Document
Click here to download >>
Note
Note: When using this mouse strain in a publication, please cite “DMD-Q995* mice (Catalog C001518) were purchased from Cyagen.”
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.
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This model is a valuable tool for studying the mechanisms of DMD and for screening potential therapeutic agents
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