Lmna^em1Iko
Endonuclease-mediated Allele Detail

Summary

• Symbol: Lmna^em1Iko
• Name: lamin A; endonuclease-mediated mutation 1, Issei Komuro
• MGI ID: MGI:7471418
• Synonyms: Lmna^Q353R
• Gene: Lmna Location: Chr3:88388455-88413842 bp, - strand Genetic Position: Chr3, 38.84 cM
• Alliance: Lmna^em1Iko page

Mutation origin

• Strain of Origin: (C57BL/6 x DBA/2)F2

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/FokI-dCAs9 technology generated an A to G change resulting in a glutamine to arginine substitution at amino acid 353. This mutation was identified in a large familial cohort with dilated cardiomyopathy. (J:335522)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(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 Lmna Mutation: 84 strains or lines available

References

• Original: J:335522 Yamada S, et al., TEAD1 trapping by the Q353R-Lamin A/C causes dilated cardiomyopathy. Sci Adv. 2023 Apr 14;9(15):eade7047
• All: 1 reference(s)