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Allele : Stim1<em1Eif> stromal interaction molecule 1; endonuclease-mediated mutation 1, Eirik Frengen

Primary Identifier  MGI:6454350 Allele Type  Endonuclease-mediated
Attribute String  Constitutively active, Humanized sequence Gene  Stim1
Strain of Origin  (C57BL/6 x CBA)F1 x C57BL/6NTac Is Recombinase  false
Is Wild Type  false
molecularNote  A chr7:102421471A>T (GRCm38.p4) point mutation was generated using zinc finger nuclease and a repair oligodinucleotide. This mutation changes arginine codon 304 to a tryptophan codon (p.R304W) and is found in Stormorken syndrome patients. Immunohistochemistry experiments showed protein expression from this allele.
  • mutations:
  • Single point mutation
  • synonyms:
  • Stim1<R304W>,
  • Stim1<R304W>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories