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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

Publications:

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.

Reference:

RT00522

Type of research tool: Laboratory Animals

Therapy area(1): Genetic Disorders

Therapy area(2): Musculoskeletal

Uses(1): Academic Research

Uses(2): Proof of concept in vivo

Uses(3): Industry Research (screening, tox.studies, bioreactor, ...)

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Research Tools

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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