Dmpk^em2Sws
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dmpk^em2Sws
• Name: dystrophia myotonica-protein kinase; endonuclease-mediated mutation 2, Maurice S Swanson
• MGI ID: MGI:6507411
• Synonyms: CTG⁴⁸⁰
• Gene: Dmpk Location: Chr7:18817774-18827746 bp, + strand Genetic Position: Chr7, 9.46 cM
• Alliance: Dmpk^em2Sws 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 480 CTG repeat expansion into the 3'UTR. 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: 2 reference(s)