Limch1^em1Coop
Endonuclease-mediated Allele Detail

Summary

• Symbol: Limch1^em1Coop
• Name: LIM and calponin homology domains 1; endonuclease-mediated mutation 1, Thomas A Cooper
• MGI ID: MGI:7580925
• Synonyms: Limch1 6exKO
• Gene: Limch1 Location: Chr5:66903232-67214502 bp, + strand Genetic Position: Chr5, 35.95 cM
• Alliance: Limch1^em1Coop page

Mutation origin

• Strain of Origin: FVB

Mutation description

• Allele Type: Endonuclease-mediated (Modified isoform(s), Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: In mouse, the skeletal muscle-specific isoform contains 6 additional exons included after birth and is the predominant isoform in adult skeletal muscle. CRISPR/Cas9 genome editing technology was used to delete exons 9-14 encoding the skeletal muscle-specific isoform, thereby forcing the constitutive expression of the ubiquitous isoform that normally predominates in fetal skeletal muscle. RT-PCR analysis demonstrated the absence of the 6 alternatively spliced exons and the correct splicing of the flanking constitutive exons 8 and 15 that are included in RNA from knockout skeletal muscle tissues. Western blotting confirmed that knockout mice lack protein expression of the skeletal muscle-specific isoform and exclusively express the fetal predominant isoform in adult skeletal (quadriceps, EDL, and soleus) muscle. (J:336773)

Expression

In Structures Affected by this Mutation:

1 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 Limch1 Mutation: 60 strains or lines available

References

• Original: J:336773 Penna MS, et al., The role of Limch1 alternative splicing in skeletal muscle function. Life Sci Alliance. 2023 Jun;6(6)
• All: 1 reference(s)