Lemd2^em5348Tac
Endonuclease-mediated Allele Detail

Summary

• Symbol: Lemd2^em5348Tac
• Name: LEM domain containing 2; endonuclease-mediated mutation 5348, Taconic
• MGI ID: MGI:7506248
• Synonyms: Lemd2^{em5348(L13R)Tac}
• Gene: Lemd2 Location: Chr17:27408574-27423443 bp, - strand Genetic Position: Chr17, 13.82 cM
• Alliance: Lemd2^em5348Tac page

Mutation origin

• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a T to G change at position 38 (c.38T>G) resulting in a leucine to arginine substitution at amino acid 13 (p.L13R) in exon 1. Additional silent mutations were inserted into exon 1 to generate a Hind III restriction site for genotyping. The p.L13R variant has been identified in patients with arrhythmic cardiomyopathy. (J:337558)

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 Lemd2 Mutation: 22 strains or lines available

References

• Original: J:337558 Chen R, et al., Mechanistic Insights of the LEMD2 p.L13R Mutation and Its Role in Cardiomyopathy. Circ Res. 2023 Jan 20;132(2):e43-e58
• All: 1 reference(s)