Tmem175^em3Dren
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tmem175^em3Dren
• Name: transmembrane protein 175; endonuclease-mediated mutation 3, Dejian Ren
• MGI ID: MGI:6695108
• Synonyms: Tmem175^I390T
• Gene: Tmem175 Location: Chr5:108777649-108795636 bp, + strand Genetic Position: Chr5, 53.24 cM
• Alliance: Tmem175^em3Dren 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 a TC to CG change resulting in an isoleucine to threonine substitution at residue 390 (p.I390T). This corresponds to a common human M393T variant associated with increased risk of developing Parkinson's disease. (J:304120)

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 Tmem175 Mutation: 23 strains or lines available

References

• Original: J:304120 Wie J, et al., A growth-factor-activated lysosomal K(+) channel regulates Parkinson's pathology. Nature. 2021 Mar;591(7850):431-437
• All: 1 reference(s)