Tmem106b^em3Damme
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tmem106b^em3Damme
• Name: transmembrane protein 106B; endonuclease-mediated mutation 3, Markus Damme
• MGI ID: MGI:7486152
• Synonyms: Tmem106b^T186S
• Gene: Tmem106b Location: Chr6:13069758-13089268 bp, + strand Genetic Position: Chr6, 5.38 cM, cytoband A2
• Alliance: Tmem106b^em3Damme page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated an CT to GC change resulting in a threonine to serine substitution at amino acid 186 (p.T186S) in exon 6. Additional silent mutations were introduced to suppress further Cas9 cleavage activity. This variant is a modifier of disease risk in frontotemporal lobar degeneration patients with progranulin mutations and is a protective allele. (J:336032)

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 Tmem106b Mutation: 29 strains or lines available

References

• Original: J:336032 Cabron AS, et al., Lack of a protective effect of the Tmem106b "protective SNP" in the Grn knockout mouse model for frontotemporal lobar degeneration. Acta Neuropathol Commun. 2023 Jan 27;11(1):21
• All: 1 reference(s)