Tmem135^em1Aike
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tmem135^em1Aike
• Name: transmembrane protein 135; endonuclease-mediated mutation 1, Akihiro Ikeda
• MGI ID: MGI:6368629
• Gene: Tmem135 Location: Chr7:88788922-89053430 bp, - strand Genetic Position: Chr7, 49.32 cM, cytoband E1
• Alliance: Tmem135^em1Aike page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: CRISPR-targeting of intron 12 substituted a C for T resulting in skipping of exon 12, intruduction of a novel stop codon, and protein truncation from 458 to 406 amino acids. The predicted protein lacks the last two transmembrane domains and produces an extracellular C-terminus. (J:237184)

Expression

In Structures Affected by this Mutation:

1 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 Tmem135 Mutation: 52 strains or lines available

References

• Original: J:237184 Lee WH, et al., Mouse Tmem135 mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologies. Elife. 2016 Nov 15;5:e19264
• All: 1 reference(s)