Dmpk^em1Sws
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dmpk^em1Sws
• Name: dystrophia myotonica-protein kinase; endonuclease-mediated mutation 1, Maurice S Swanson
• MGI ID: MGI:6507410
• Synonyms: CTG¹⁷⁰
• Gene: Dmpk Location: Chr7:18817774-18827746 bp, + strand Genetic Position: Chr7, 9.46 cM
• Alliance: Dmpk^em1Sws page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Insertion
• Mutation details: CRISPR/Cas9 technology inserted a 170 CTG repeat expansion into the 3'UTR. Protein levels are decreased by about 50% in heterozygous and more than 90% in homozygous tibialis anterior muscles. This is due to the inhibition of mRNA nuclear export as mice show an accumulation of numerous nuclear CUG repeat expansion RNA foci in the nucleus of myoblasts and differentiated myotubes.The CTG expansions are stable with no germline contractions or expansions observed up to 12 months of age. (J:284198)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Dmpk Mutation: 37 strains or lines available

References

• Original: J:284198 Nutter CA, et al., Cell-type-specific dysregulation of RNA alternative splicing in short tandem repeat mouse knockin models of myotonic dystrophy. Genes Dev. 2019 Dec 1;33(23-24):1635-1640
• All: 1 reference(s)