Stim1^em1Eif
Endonuclease-mediated Allele Detail

Summary

• Symbol: Stim1^em1Eif
• Name: stromal interaction molecule 1; endonuclease-mediated mutation 1, Eirik Frengen
• MGI ID: MGI:6454350
• Synonyms: Stim1^R304W
• Gene: Stim1 Location: Chr7:101917013-102086526 bp, + strand Genetic Position: Chr7, 54.71 cM
• Alliance: Stim1^em1Eif page

Mutation origin

• Strain of Origin: (C57BL/6 x CBA)F1 x C57BL/6NTac

Mutation description

• Allele Type: Endonuclease-mediated (Constitutively active, Humanized sequence)
• Mutation: Single point mutation
• Mutation details: 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. (J:293834)

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 Stim1 Mutation: 45 strains or lines available

References

• Original: J:293834 Gamage TH, et al., STIM1 R304W causes muscle degeneration and impaired platelet activation in mice. Cell Calcium. 2018 Dec;76:87-100
• All: 2 reference(s)