Lmna^em1Fenz
Endonuclease-mediated Allele Detail

Summary

• Symbol: Lmna^em1Fenz
• Name: lamin A; endonuclease-mediated mutation 1, Fenping Zheng
• MGI ID: MGI:7518551
• Synonyms: Lmna^R133L
• Gene: Lmna Location: Chr3:88388455-88413842 bp, - strand Genetic Position: Chr3, 38.84 cM
• Alliance: Lmna^em1Fenz page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Arginine codon 133 (CGG) in exon 2 was changed to leucine (CTG) (p.R133L) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation associated with atypical progeria syndrome (APS). (J:338760)

Disease models

Expression

In Structures Affected by this Mutation:

7 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 Lmna Mutation: 82 strains or lines available

References

• Original: J:338760 Qiu R, et al., Mice harboring a R133L heterozygous mutation in LMNA exhibited ectopic lipid accumulation, aging, and mitochondrial dysfunction in adipose tissue. FASEB J. 2023 Feb;37(2):e22730
• All: 1 reference(s)