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| Nomenclature |
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Symbol:
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Ercc6tm1Gvh
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Name:
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excision repair cross-complementing rodent repair deficiency, complementation group 6;
targeted mutation 1, Gijsbertus van der Horst
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MGI ID: |
MGI:1932102 |
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Synonyms: |
Csb-, CSB-, Csbm |
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Gene:
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Ercc6
Location:
Chr14:32513521-32580989 bp, + strand
Genetic Position: Chr14,
19.4 cM
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Ercc6tm1Gvh/Ercc6tm1Gvh Xpatm1Hvs/Xpatm1Hvs mice display postnatal growth retardation
Show the 11 image(s) involving this allele.
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:40211
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Parent Cell Line:
| E14 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: Insertion of a floxed neomycin resistance cassette into exon 5 near a site corresponding to a known human mutation disrupted the Ercc6 gene. RT-PCR and Western blot analyses of E13.5 fibroblasts from homozygous mutant animals did not detect wild-type transcript or wild-type protein, but indicate that the mutant allele expresses mRNA at low levels. (J:40211)
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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 Ercc6 Mutation:
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6 strains or lines available |
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| References |
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Original: |
J:40211
van der Horst GT et al.,
"Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition."
Cell 1997 May 2;89(3):425-35
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All: |
39 reference(s)
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