Orai1^tm1Fesk
Targeted Allele Detail

Summary

• Symbol: Orai1^tm1Fesk
• Name: ORAI calcium release-activated calcium modulator 1; targeted mutation 1, Stefan Feske
• MGI ID: MGI:3832514
• Synonyms: Orai1^R93W
• Gene: Orai1 Location: Chr5:123153137-123168519 bp, + strand Genetic Position: Chr5, 62.72 cM
• Alliance: Orai1^tm1Fesk page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:144861
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 1 was replaced with one in which a C to T transition results in an amino acid substitution of tryptophan for arginine at position 93 (R93W). A self-excising neo cassette was inserted downstream of exon 1 and was subsequently removed. This amino acid substitution mimic the one identified in human SCID patients that abrogates store-operated calcium entry and calcium release-activated channel currents. (J:144861)

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 Orai1 Mutation: 22 strains or lines available

Notes

ES cell line = B6/3

References

• Original: J:144861 Bergmeier W, et al., R93W mutation in Orai1 causes impaired calcium influx in platelets. Blood. 2009 Jan 15;113(3):675-8
• All: 5 reference(s)