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Allele : Stub1<em1Schiz> STIP1 homology and U-Box containing protein 1; endonuclease-mediated mutation 1, Jonathan Schisler

Primary Identifier  MGI:5883530 Allele Type  Endonuclease-mediated
Gene  Stub1 Inheritance Mode  Recessive
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated an ACA to ATG mutation at nucleotides 740 and 741, resulting in a change of threonine to methionine at amino acid 247. This mutation is predicted to result in loss of ubiquitin ligase activity. Western blot analysis indicates significantly lower protein levels, potentially due to shorter half-life of the mutated protein.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • CHIP,
  • CHIP<M247>,
  • CHIP,
  • CHIP<M247>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

4 Publication categories

Trail: Allele