Dmd^em#Tve
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dmd^em#Tve
• Name: dystrophin, muscular dystrophy; endonuclease-mediated mutation, Tatiana V Egorova
• MGI ID: MGI:6394017
• Synonyms: DMD^del8-34
• Gene: Dmd Location: ChrX:81992476-84249747 bp, + strand Genetic Position: ChrX, 38.38 cM, cytoband C
• Alliance: Dmd^em#Tve page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology deleted exons 8-34 using two sgRNAs 5'-TGATCTGTTGGGTCTTCG(GGG)-3' and 5'-GTGGCAGACTAGTAGTTTG(AGG)-3'. This deletion recapitulates a large de novo deletion of these exons in a Russian Duchenne muscular dystrophy patient. The pound symbol (#) is used for the pool of founders 35, 40, 64, and 101. (J:275476)

Disease models

Expression

In Structures Affected by this Mutation:

4 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:275476 Egorova TV, et al., CRISPR/Cas9-generated mouse model of Duchenne muscular dystrophy recapitulating a newly identified large 430 kb deletion in the human DMD gene. Dis Model Mech. 2019 Apr 25;12(4):dmm037655
• All: 1 reference(s)