Slc12a3^tm1Ges
Targeted Allele Detail

Summary

• Symbol: Slc12a3^tm1Ges
• Name: solute carrier family 12, member 3; targeted mutation 1, Gary E Shull
• MGI ID: MGI:3513101
• Synonyms: Ncc^-
• Gene: Slc12a3 Location: Chr8:95055829-95092842 bp, + strand Genetic Position: Chr8, 46.46 cM
• Alliance: Slc12a3^tm1Ges page

Mitochondrial abnormalities in renal distal convoluted tubule cells of Slc12a3^tm1Ges/Slc12a3^tm1Ges mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:50596
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: A neomycin gene was inserted into exon 12. Kidneys from mutants demonstrated a lack of transcript by Northern blot analysis. (J:50596)

Disease models

Expression

In Mice Carrying this Mutation:	8 assay results
In Structures Affected by this Mutation:	4 anatomical structure(s)

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 Slc12a3 Mutation: 54 strains or lines available

References

• Original: J:50596 Schultheis PJ, et al., Phenotype resembling Gitelman's syndrome in mice lacking the apical Na+-Cl- cotransporter of the distal convoluted tubule. J Biol Chem. 1998 Oct 30;273(44):29150-5
• All: 26 reference(s)