Dmd^em4Eno
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dmd^em4Eno
• Name: dystrophin, muscular dystrophy; endonuclease-mediated mutation 4, Eric N Olson
• MGI ID: MGI:6438148
• Synonyms: deltaEx44
• Gene: Dmd Location: ChrX:81992476-84249747 bp, + strand Genetic Position: ChrX, 38.38 cM, cytoband C
• Alliance: Dmd^em4Eno page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 908 bp deletion that eliminated exon 44, producing a premature stop codon in exon 45. This is one of the most common deletions responsible for Duchenne muscular dystrophy in humans. RT-PCR and product sequencing confirmed the deletion of exon 44. Western blot analysis confirmed the absence of protein. (J:285447)

Disease models

Expression

In Mice Carrying this Mutation:	3 assay results
In Structures Affected by this Mutation:	3 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: 154 strains or lines available

References

• Original: J:285447 Min YL, et al., CRISPR-Cas9 corrects Duchenne muscular dystrophy exon 44 deletion mutations in mice and human cells. Sci Adv. 2019 Mar;5(3):eaav4324
• All: 3 reference(s)