Slc12a3^tm1.1Slin
Targeted Allele Detail

Summary

• Symbol: Slc12a3^tm1.1Slin
• Name: solute carrier family 12, member 3; targeted mutation 1.1, Shih-Hua Lin
• MGI ID: MGI:7511768
• Synonyms: Ncc^T58M
• Gene: Slc12a3 Location: Chr8:95055829-95092842 bp, + strand Genetic Position: Chr8, 46.46 cM
• Alliance: Slc12a3^tm1.1Slin page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:338297
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: A TCT to TAG change resulting in a threonine to methionine substitution at amino acid 58 (p.T58M) was introduced into exon 1. A loxP flanked neomycin selection cassette that was inserted downstream of exon 1 was removed via cre-expression in ES cells. This mutation corresponds to the p.T60M variant that is common in patients with Gitelman syndrome. (J:338297)

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:338297 Yang SS, et al., Phosphorylation regulates NCC stability and transporter activity in vivo. J Am Soc Nephrol. 2013 Oct;24(10):1587-97
• All: 1 reference(s)