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| Nomenclature |
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Symbol:
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Slc12a6tm1Tjj
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Name:
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solute carrier family 12, member 6;
targeted mutation 1, Thomas J Jentsch
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MGI ID: |
MGI:2680042 |
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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:86183
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Parent Cell Line:
| MPI-II (ES Cell) |
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Strain of Origin:
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129S2/SvPas
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Mutation
description |
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Allele
Type: | |
Targeted (Reporter) |
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Mutation: | |
Disruption caused by insertion of vector |
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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)
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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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| References |
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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
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All: |
3 reference(s)
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Analysis Tools
