Lmna^em1Lidai
Endonuclease-mediated Allele Detail

Summary

• Symbol: Lmna^em1Lidai
• Name: lamin A; endonuclease-mediated mutation 1, Limeng Dai
• MGI ID: MGI:7581997
• Synonyms: Lmna^W520R
• Gene: Lmna Location: Chr3:88388455-88413842 bp, - strand Genetic Position: Chr3, 38.84 cM
• Alliance: Lmna^em1Lidai page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Tryptophan codon 520 (TGG) in exon 9 was changed to arginine (CGG) (p.W520R) using sgRNAs and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation associated with Emery-Dreifuss muscular dystrophy (EDMD2). (J:345078)

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:345078 Wu Y, et al., LMNA-related muscular dystrophy involving myoblast proliferation and apoptosis through the FOXO1/GADD45A pathway. Biochim Biophys Acta Mol Basis Dis. 2023 Nov 10;1870(2):166943
• All: 1 reference(s)