Trpc6^em1Jscf
Endonuclease-mediated Allele Detail

Summary

• Symbol: Trpc6^em1Jscf
• Name: transient receptor potential cation channel, subfamily C, member 6; endonuclease-mediated mutation 1, Johannes S Schlondorff
• MGI ID: MGI:7466184
• Synonyms: Trpc6^E896K
• Gene: Trpc6 Location: Chr9:8544143-8680742 bp, + strand Genetic Position: Chr9, 2.46 cM, cytoband A1
• Alliance: Trpc6^em1Jscf page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated an glutamate to lysine substitution at amino acid 896 (p.E896K). This mimics the human focal segmental glomerulosclerosis (FSGS) disease associated mutation E897K and is a gain-of-function allele. (J:334958)

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 Trpc6 Mutation: 68 strains or lines available

References

• Original: J:334958 Boekell KL, et al., Trpc6 gain-of-function disease mutation enhances phosphatidylserine exposure in murine platelets. PLoS One. 2022;17(6):e0270431
• All: 1 reference(s)