Mrps12^em2.2Afi
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mrps12^em2.2Afi
• Name: mitochondrial ribosomal protein S12; endonuclease-mediated mutation 2.2, Aleksandra Filipovska
• MGI ID: MGI:6842913
• Synonyms: Mrps12^ha
• Gene: Mrps12 Location: Chr7:28439066-28441245 bp, - strand Genetic Position: Chr7, 16.91 cM
• Alliance: Mrps12^em2.2Afi page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutations: Insertion, Single point mutation
• Mutation details: CRISPR-targeting floxed the endogenous exon 2 and inserted an exon 2 with a point mutations encoding the amino acid substitution lysine to threonine at position 71 (K71T). This mutation produces a protein with hyper-accurate translation (ha). Flp-mediated recombination removed the FRT-flanked neomycin resistance cassette. Cre-mediated recombination removed the endogenous exon 2. (J:284101)

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 Mrps12 Mutation: 10 strains or lines available

References

• Original: J:284101 Ferreira N, et al., Stress signaling and cellular proliferation reverse the effects of mitochondrial mistranslation. EMBO J. 2019 Dec 16;38(24):e102155
• All: 2 reference(s)