Lemd2^em1Eno
Endonuclease-mediated Allele Detail

Summary

• Symbol: Lemd2^em1Eno
• Name: LEM domain containing 2; endonuclease-mediated mutation 1, Eric N Olson
• MGI ID: MGI:7444804
• Synonyms: KI
• Gene: Lemd2 Location: Chr17:27408574-27423443 bp, - strand Genetic Position: Chr17, 13.82 cM
• Alliance: Lemd2^em1Eno page

Mutation origin

• Strain of Origin: (C57BL/6 x C3H)F2

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Hypomorph)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a T to G change at position 38 (c.T38>G) resulting in a leucine to arginine substitution at codon 13 (p.L13R). A silent mutation (c.G24>A) was also engineered to prevent recutting after editing. This is a variant found in patients with cardiomyopathy. RT-qPCR showed reduced mRNA levels and Western blot analysis showed that protein levels of both isoforms are reduced and that both isoforms display a greater size. (J:331716)

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Lemd2 Mutation: 20 strains or lines available

References

• Original: J:331716 Caravia XM, et al., Loss of function of the nuclear envelope protein LEMD2 causes DNA damage-dependent cardiomyopathy. J Clin Invest. 2022 Nov 15;132(22)
• All: 1 reference(s)