Lmod3^em1Eno
Endonuclease-mediated Allele Detail

Summary

• Symbol: Lmod3^em1Eno
• Name: leiomodin 3 (fetal); endonuclease-mediated mutation 1, Eric N Olson
• MGI ID: MGI:5701345
• Synonyms: delta2-KO
• Gene: Lmod3 Location: Chr6:97215495-97229720 bp, - strand Genetic Position: Chr6, 44.92 cM
• Alliance: Lmod3^em1Eno page

Mutation origin

• Strain of Origin: (C57BL/6 x C3H)F2

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: TALEN pairs targeting the second exon lead to a 2 nucleotide frameshift deletion resulting in a premature termination codon after codon 133 and removing the leucine-rich repeat and WH2 actin-binding domains. Western blot analysis confirmed absence of protein in skeletal muscle. (J:222174)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Lmod3 Mutation: 19 strains or lines available

References

• Original: J:222174 Cenik BK, et al., Severe myopathy in mice lacking the MEF2/SRF-dependent gene leiomodin-3. J Clin Invest. 2015 Apr;125(4):1569-78
• All: 1 reference(s)