Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | Notes | References

Symbol:	Slc12a6tm1Dlp
Name:	solute carrier family 12, member 6; targeted mutation 1, Eric Delpire
MGI ID:	MGI:2429639
Synonyms:	KCC3-, Slc12a6tm1Garo
Gene:	Slc12a6  Location: Chr2:112096659-112193508 bp, + strand  Genetic Position: Chr2, 56.99 cM
Alliance:	Slc12a6tm1Dlp page

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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

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:	8 reference(s)