Orai1^em1Ics
Endonuclease-mediated Allele Detail

Summary

• Symbol: Orai1^em1Ics
• Name: ORAI calcium release-activated calcium modulator 1; endonuclease-mediated mutation 1, Mouse Clinical Institute
• MGI ID: MGI:8246889
• Synonyms: Orai1^V109M
• Gene: Orai1 Location: Chr5:123153137-123168519 bp, + strand Genetic Position: Chr5, 62.72 cM
• Alliance: Orai1^em1Ics page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:372266
• Parent Cell Line: S3 (ES Cell)
• Strain of Origin: C57BL/6NCrl

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/cas9 mediated recombination using guide RNA targeting exon 2 introduced a GTC to ATG (p.V109M) mutation. This mutation is homologous to one in human Tubular aggregate myopathy patients. (J:372266)

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

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: 20 strains or lines available

References

• Original: J:372266 Perez-Guardia L, et al., A Gain-of-Function Mutation in the Ca(2+) Channel ORAI1 Causes Stormorken Syndrome with Tubular Aggregates in Mice. Cells. 2024 Nov 6;13(22)
• All: 1 reference(s)