Tmem106b^em1Jjan
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tmem106b^em1Jjan
• Name: transmembrane protein 106B; endonuclease-mediated mutation 1, Joanna Jankowsky
• MGI ID: MGI:7562521
• Synonyms: Tmem106b^T186S
• Gene: Tmem106b Location: Chr6:13069758-13089268 bp, + strand Genetic Position: Chr6, 5.38 cM, cytoband A2
• Alliance: Tmem106b^em1Jjan page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/cas9 endonuclease-mediated genome editing is used to create an amino acid substitution at position 186 altering threonine to serine (T186S; ACT to TCG) with two silent mutations (I185I, ATA to ATT, and L191L, CTT to TTA) in exon 6. The mutation is homologous to human T185S and is associated with frontotemporal lobar degeneration. (J:343012)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Tmem106b Mutation: 29 strains or lines available

References

• Original: J:343012 Edwards GA, et al., TMEM106B coding variant is protective and deletion detrimental in a mouse model of tauopathy. bioRxiv. 2023
• All: 3 reference(s)