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Allele : Otulin<em1Gvl> OTU deubiquitinase with linear linkage specificity; endonuclease-mediated mutation 1, Geert van Loo
Primary Identifier  MGI:7256497 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Otulin
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  Using an sgRNA (targeting ATGACCCTGAACAGCTCCTG) and an ssODN template (AAGTGCCGTTCTTCTCTGTGCTCTTGTTTGCCCGAGACACATCCAATGACCCTGAACAGCCACTGAGGAACCACCTAAACCAGGTGGGACACACGGGGGGCCTTGAGCAGGTGAGTTGTGGC) with CRIRPR/Cas9 technology, leucine codon 272 (CTC) was changed to proline (CCA) (p.L272P). This mutation is associated with the OTULIN-related auto-inflammatory syndrome (ORAS or otulipenia) in humans.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • OTULIN<L272P>,
  • OTULIN<L272P>
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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





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