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| Nomenclature |
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Symbol:
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Ercc2tm2(ERCC2)Jhjh
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Name:
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excision repair cross-complementing rodent repair deficiency, complementation group 2;
targeted mutation 2, Jan H J Hoeijmakers
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MGI ID: |
MGI:2183949 |
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Synonyms: |
TTD, Xpdm, XPDR722W, XpdTTD |
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Gene:
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Ercc2
Location:
Chr7:19382010-19395694 bp, + strand
Genetic Position: Chr7,
9.62 cM
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Cutaneous phenotypes of Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh and Ercc2tm2(ERCC2)Jhjh/Ercc2tm2Jmch mice
Show the 3 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:48256
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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-in) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: To recapitulate the photosensitive form of trichothiodystrophy, part of exon 22 and all of exon 23 were replaced with a fragment of human cDNA, containing an arginine to tryptophan missense mutation. Northern blot analysis of total testicular RNA showed overexpression of the mutant transcript. Protein level analysis was not possible due to the lack of an antibody that detects the hybrid protein. (J:48256)
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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 Ercc2 Mutation:
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3 strains or lines available |
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| References |
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Original: |
J:48256
de Boer J et al.,
"A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy."
Mol Cell 1998 Jun;1(7):981-90
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All: |
15 reference(s)
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Analysis Tools
