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| Nomenclature |
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Symbol:
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Slc12a6tm1Dlp
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Name:
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solute carrier family 12, member 6;
targeted mutation 1, Eric Delpire
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MGI ID: |
MGI:2429639 |
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Synonyms: |
KCC3-, Slc12a6tm1Garo |
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Gene:
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Slc12a6
Location:
Chr2:112265825-112363163 bp, + strand
Genetic Position: Chr2,
56.99 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:79870
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Parent Cell Line:
| Other (see notes) (ES Cell) |
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Strain of Origin:
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129/Sv
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Mutation
description |
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Allele
Type: | |
Targeted (Reporter) |
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Mutations: | |
Insertion, Intragenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Slc12a6 Mutation:
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82 strains or lines available |
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Notes |
ES cell line = LT-1.
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| References |
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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
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All: |
3 reference(s)
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Analysis Tools
