Stim1^tm1.1Pg
Targeted Allele Detail

Summary

• Symbol: Stim1^tm1.1Pg
• Name: stromal interaction molecule 1; targeted mutation 1.1, PolyGene AG
• MGI ID: MGI:7449270
• Synonyms: STIM1^I115F
• Gene: Stim1 Location: Chr7:101917013-102086526 bp, + strand Genetic Position: Chr7, 54.71 cM
• Alliance: Stim1^tm1.1Pg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:285187
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: An A to T change at position 343 (c.343A>T) resulting in an isoleucine to phenylalanine substitution at amino acid 115 (p.I115F) was introduced into exon 3. An FRT-flanked neomycin resistance cassette that was inserted in intron 3 was removed via flp-mediated recombination. (J:285187)

Disease models

Expression

In Structures Affected by this Mutation:

11 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 Stim1 Mutation: 46 strains or lines available

References

• Original: J:285187 Cordero-Sanchez C, et al., A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy. Dis Model Mech. 2019 Dec 3;13(2):dmm041111
• All: 1 reference(s)