Lmod1^em1Jomm
Endonuclease-mediated Allele Detail

Summary

• Symbol: Lmod1^em1Jomm
• Name: leiomodin 1 (smooth muscle); endonuclease-mediated mutation 1, Joseph M Miano
• MGI ID: MGI:8174728
• Gene: Lmod1 Location: Chr1:135252551-135295803 bp, + strand Genetic Position: Chr1, 58.51 cM, cytoband F
• Alliance: Lmod1^em1Jomm page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 151 bp deletion in exon 1. The deletion preserves the first 8 amino acids but introduces an 11 amino acid frameshift that results in a premature termination codon. Western blot analysis showed undetectable protein levels in homozygotes. This premature termination codon was generated to model a premature termination codon identified in a family with symptoms of megacystis microcolon intestinal hypoperistalsis syndrome. (J:241933)

Disease models

Expression

In Structures Affected by this Mutation:

9 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 Lmod1 Mutation: 29 strains or lines available

References

• Original: J:241933 Halim D, et al., Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. Proc Natl Acad Sci U S A. 2017 Mar 28;114(13):E2739-E2747
• All: 1 reference(s)