Dmpk^tm2Bew
Targeted Allele Detail

Summary

• Symbol: Dmpk^tm2Bew
• Name: dystrophia myotonica-protein kinase; targeted mutation 2, Be Wieringa
• MGI ID: MGI:3665271
• Synonyms: DM1 (CTG)n.(CAG)n
• Gene: Dmpk Location: Chr7:18817774-18827746 bp, + strand Genetic Position: Chr7, 9.46 cM
• Alliance: Dmpk^tm2Bew page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:113264
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Mutation details: Exons 13-15 were replaced with the human coding sequence for a long CTG84 repeat. Northern blot analyses demonstrated that mutant mice expressed the predicted chimeric mouse-human transcripts, resulting from alternative splicing of mouse 12 to either human exon 14 or 15. (J:113264)

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: 40 strains or lines available

References

• Original: J:113264 van den Broek WJ, et al., Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins. Hum Mol Genet. 2002 Jan 15;11(2):191-8
• All: 4 reference(s)