Dmd^em1Wehi
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dmd^em1Wehi
• Name: dystrophin, muscular dystrophy; endonuclease-mediated mutation 1, Walter and Eliza Hall Institute of Medical Research
• MGI ID: MGI:7865766
• Synonyms: mdx62, mdx^{emDel9418-9425}
• Gene: Dmd Location: ChrX:81992476-84249747 bp, + strand Genetic Position: ChrX, 38.38 cM, cytoband C
• Alliance: Dmd^em1Wehi page

Mutation origin

• Strain of Origin: BALB/c

Mutation description

• Allele Type: Endonuclease-mediated (Modified isoform(s))
• Mutation: Intergenic deletion
• Mutation details: CRISPR/Cas9 technology generated an 8 bp (CATCTCA; c.9418-9425) deletion in exon 62. Western blot analysis confirmed the absence of the full length Dp427 dystrophin protein isoform in gastrocnemius muscle, with a subsequent reduction in the overall expression of the beta-dystroglycan protein. Western immunoblotting extracts from the sciatic nerve confirmed the loss of Dp116 expression but maintenance of Dp71 and Dp40 expression. Immunofluorescence confirmed the absence of dystrophin protein at the sarcolemma of fibers in the tibialis anterior muscle and diaphragm. (J:353371)

Disease models

Expression

In Structures Affected by this Mutation:

14 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: 156 strains or lines available

References

• Original: J:353371 Swiderski K, et al., The BALB/c.mdx62 mouse exhibits a dystrophic muscle pathology and is a model of Duchenne muscular dystrophy. Dis Model Mech. 2024 Apr 1;17(4)
• All: 1 reference(s)