Transgenic mouse model for myotonic dystrophy: dm300 carrying 300 ctg repeats

Transgenic mouse model carrying the myotonic dystrophy type 1 (DM1) locus (45kb of human sequences) with the DMPK gene and about 300 unstable CTG repeats.

Interest / Relevance: As in humans, the 300 CTG repeats are unstable over successive generations and in tissues. Moreover, CTG repeat length changes are biased towards expansions as observed in DM1 families. This model has been used primarily to study the mechanisms underlying the instability of CTG repeats. Homozygous mice exhibit a mild phenotype associated with very mild splicing defects.
Keywords: Myotonic dystrophy, Trinucleotide repeat instability
doi: 10.1093/hmg/9.8.1185.doi: 10.1093/emboj/cdg202.doi: 10.1128/MCB.24.2.629-637.2004.doi: 10.1007/s00439-006-0164-7.



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Species: Mus musculus
Genotype: Hemizygous or homozygous transgenic mice
Strain: DM300-328
Genetic Background: C57BL/6
Applications: To study the instability of trinucleotide repeats and/or test therapeutic strategies aimed at suppressing the CTG repeats or reducing the somatic instability.
Rare disease: Yes
Last update: 12/06/2024

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