Mymx^em3Eno
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mymx^em3Eno
• Name: myomixer, myoblast fusion factor; endonuclease-mediated mutation 3, Eric N Olson
• MGI ID: MGI:8247877
• Synonyms: Mymx R46*
• Gene: Mymx Location: Chr17:45911897-45913028 bp, - strand Genetic Position: Chr17, 22.59 cM
• Alliance: Mymx^em3Eno page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Hypomorph)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated an A to T change at position 136 (c.136A>T) resulting in an arginine to a termination codon (p.R46*) at amino acid 46. This is a variant identified in myopathic patients with Carey-Fineman-Ziter syndrome. (J:372295)

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 Mymx Mutation: 27 strains or lines available

References

• Original: J:372295 Ramirez-Martinez A, et al., Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome. J Clin Invest. 2022 Jun 1;132(11):e159002
• All: 1 reference(s)