Orai1^em1Dirr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Orai1^em1Dirr
• Name: ORAI calcium release-activated calcium modulator 1; endonuclease-mediated mutation 1, Robert T Dirksen
• MGI ID: MGI:8273507
• Synonyms: Orai1^G100S
• Gene: Orai1 Location: Chr5:123153137-123168519 bp, + strand Genetic Position: Chr5, 62.72 cM
• Alliance: Orai1^em1Dirr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/cas9-mediated recombination using a single-stranded DNA donor (5'-GCTCTGCTCAGCTCCTTCGCGATGGTGAGCTCGGGCCTCCCTGCCCTCCTC-3') created a G100S mutation in exon 1 and silent changes at the protospacer adjacent motif (PAM) sequence. (J:376832)

Disease models

Expression

In Structures Affected by this Mutation:

3 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: 22 strains or lines available

References

• Original: J:376832 Zhao N, et al., An Orai1 gain-of-function tubular aggregate myopathy mouse model phenocopies key features of the human disease. EMBO J. 2024 Dec;43(23):5941-5971
• All: 1 reference(s)