Dmd^em1Eno
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dmd^em1Eno
• Name: dystrophin, muscular dystrophy; endonuclease-mediated mutation 1, Eric N Olson
• MGI ID: MGI:6163634
• Synonyms: deltaEx50
• Gene: Dmd Location: ChrX:81992476-84249747 bp, + strand Genetic Position: ChrX, 38.38 cM, cytoband C
• Alliance: Dmd^em1Eno page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 245 bp deletion that completely eliminated exon 50. DNA sequencing of RT-PCR products confirmed deletion of exon 50, which places the gene out of frame. Western blot analysis confirmed absence of protein in skeletal muscle and heart. (J:253191)

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: 153 strains or lines available

References

• Original: J:253191 Amoasii L, et al., Single-cut genome editing restores dystrophin expression in a new mouse model of muscular dystrophy. Sci Transl Med. 2017 Nov 29;9(418)
• All: 1 reference(s)