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Allele : Limch1<em1Coop> LIM and calponin homology domains 1; endonuclease-mediated mutation 1, Thomas A Cooper

Primary Identifier  MGI:7580925 Allele Type  Endonuclease-mediated
Attribute String  Modified isoform(s), Null/knockout Gene  Limch1
Strain of Origin  FVB Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • Limch1 6exKO,
  • Limch1 6exKO
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories