Lmod1^em2Jomm
Endonuclease-mediated Allele Detail

Summary

• Symbol: Lmod1^em2Jomm
• Name: leiomodin 1 (smooth muscle); endonuclease-mediated mutation 2, Joseph M Miano
• MGI ID: MGI:8174731
• Synonyms: CArG-Mut
• Gene: Lmod1 Location: Chr1:135252551-135295803 bp, + strand Genetic Position: Chr1, 58.51 cM, cytoband F
• Alliance: Lmod1^em2Jomm page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Modified regulatory region)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology targeting the two CArG elements within the proximal promoter generated a CTT to GGG change in the first CArG box and CTA to GGG change in the second CArG box. RT-PCR showed reduced expression in aorta, but no difference in other tissues. Western blot analysis showed no difference in protein levels in bladder or aorta. (J:241933)

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)