Dmd^em1Rcn
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dmd^em1Rcn
• Name: dystrophin, muscular dystrophy; endonuclease-mediated mutation 1, Ronald D Cohn
• MGI ID: MGI:8270633
• Synonyms: Dmd^delta52-54
• Gene: Dmd Location: ChrX:81992476-84249747 bp, + strand Genetic Position: ChrX, 38.38 cM, cytoband C
• Alliance: Dmd^em1Rcn page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology targeting intron 51 and intron 54 generated a 116 kb deletion encompassing exons 52-54 and produced a premature termination codon in exon 55. In addition, sequencing revealed a 1 bp insertion between predicted Cas9 cleavage sites. The splice sites upstream of exon 55 are unaffected. Western blot shows absence of dystrophin in the gastrocnemius, triceps, diaphragm, and heart muscles. (J:296560)

Disease models

Expression

In Structures Affected by this Mutation:

6 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:296560 Wong TWY, et al., A novel mouse model of Duchenne muscular dystrophy carrying a multi-exonic Dmd deletion exhibits progressive muscular dystrophy and early-onset cardiomyopathy. Dis Model Mech. 2020 Sep 21;13(9):dmm045369
• All: 2 reference(s)