Slc12a6^tm1Tjj
Targeted Allele Detail

Summary

• Symbol: Slc12a6^tm1Tjj
• Name: solute carrier family 12, member 6; targeted mutation 1, Thomas J Jentsch
• MGI ID: MGI:2680042
• Synonyms: Kcc3^-
• Gene: Slc12a6 Location: Chr2:112096659-112193508 bp, + strand Genetic Position: Chr2, 56.99 cM
• Alliance: Slc12a6^tm1Tjj page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:86183
• Parent Cell Line: MPI-II (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A cassette containing lacZ and neo replaced a 2.2 kb genomic fragment encompassing 95 bp of exon 3 and all of exon 4. While normal protein was undetected by Western blot analysis of various tissues obtained from homozygous mutant mice, expression of a hybrid protein consisting of the endogenous N-terminal fused to lacZ was detected. (J:86183)

Disease models

Expression

In Structures Affected by this Mutation:

11 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 Slc12a6 Mutation: 120 strains or lines available

References

• Original: J:86183 Boettger T, et al., Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold. EMBO J. 2003 Oct 15;22(20):5422-34
• All: 6 reference(s)