Slc12a6^tm1Dlp
Targeted Allele Detail

Summary

• Symbol: Slc12a6^tm1Dlp
• Name: solute carrier family 12, member 6; targeted mutation 1, Eric Delpire
• MGI ID: MGI:2429639
• Synonyms: KCC3^-, Slc12a6^tm1Garo
• Gene: Slc12a6 Location: Chr2:112096659-112193508 bp, + strand Genetic Position: Chr2, 56.99 cM
• Alliance: Slc12a6^tm1Dlp page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:79870
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The gene was disrupted by replacement of exon 3 with a lacZ-neo cassette containing a splice acceptor site and IRES sequence. Absence of gene expression in homozygous mutant animals was verified by Western blot analysis of brain microsomal proteins using antibodies directed against the N-terminus. (J:79870)

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 Slc12a6 Mutation: 120 strains or lines available

Notes

ES cell line = LT-1.

References

• Original: J:79870 Howard HC, et al., The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet. 2002 Nov;32(3):384-92
• All: 9 reference(s)