Slc12a3^em3Gpt
Endonuclease-mediated Allele Detail

Summary

• Symbol: Slc12a3^em3Gpt
• Name: solute carrier family 12, member 3; endonuclease-mediated mutation 3, GemPharmatech Co., Ltd
• MGI ID: MGI:7495476
• Synonyms: Ncc^R156Q
• Gene: Slc12a3 Location: Chr8:95055829-95092842 bp, + strand Genetic Position: Chr8, 46.46 cM
• Alliance: Slc12a3^em3Gpt page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated an arginine to glutamine substitution at amino acid 156 (p.R156Q). This corresponds to one of the human variants, p.R158Q, identified in Gitelman syndrome. (J:336073)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Slc12a3 Mutation: 54 strains or lines available

References

• Original: J:336073 Li Z, et al., R158Q and G212S, novel pathogenic compound heterozygous variants in SLC12A3 of Gitelman syndrome. Front Med. 2022 Dec;16(6):932-945
• All: 1 reference(s)