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| Nomenclature |
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Symbol:
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Ercc5tm4Shm
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Name:
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excision repair cross-complementing rodent repair deficiency, complementation group 5;
targeted mutation 4, Tadahiro Shiomi
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MGI ID: |
MGI:3043590 |
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Synonyms: |
XpgD811A |
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Gene:
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Ercc5
Location:
Chr1:44147847-44181260 bp, + strand
Genetic Position: Chr1,
23.55 cM, cytoband B
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:89911
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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Mutation details: Aspartic acid (811) was converted to alanine and a loxP flanked PGK-neo cassette added via homologous recombination. This corresponds to a known human mutation and should abolish 3' excision activity. Northern blot analysis confirmed the presence of mRNA of normal size and amount. (J:89911)
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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 Ercc5 Mutation:
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1 strain or line available |
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| References |
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Original: |
J:89911
Shiomi N et al.,
"Identification of the XPG region that causes the onset of Cockayne syndrome by using Xpg mutant mice generated by the cDNA-mediated knock-in method."
Mol Cell Biol 2004 May;24(9):3712-9
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All: |
2 reference(s)
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