Dmd^em2Rcn
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dmd^em2Rcn
• Name: dystrophin, muscular dystrophy; endonuclease-mediated mutation 2, Ronald D Cohn
• MGI ID: MGI:8270634
• Synonyms: Dmd^delta52-55
• Gene: Dmd Location: ChrX:81992476-84249747 bp, + strand Genetic Position: ChrX, 38.38 cM, cytoband C
• Alliance: Dmd^em2Rcn page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology targeting intron 51 and intron 55 generated a 213 kb deletion encompassing exons 52-55. In addition, sequencing identified a deletion of an additional 5 bp upstream and downstream of the expected Cas9 cut sites. The absence of exons 52 to 55 was confirmed through whole-genome sequencing. The splice sites are unaffected, indicating an in-frame deletion. Deletion of exons 52 to 55 is a candidate variant for generating a Becker muscular dystrophy-like in-frame deletion as it lies within one of the known mutational hotspots in the gene. Western blot analysis shows expression of a truncated protein and immunofluorescence staining indicates that dystrophin expression levels in muscle are similar to that seen in wild-type mice. (J:376007)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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 Dmd Mutation: 167 strains or lines available

References

• Original: J:376007 Perillat LOM, et al., Generation and characterization of a mouse model of Becker muscular dystrophy with a deletion of Dmd exons 52 to 55. Dis Model Mech. 2025 Oct 1;18(10)
• All: 1 reference(s)