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Targeted Allele Detail
Symbol: Ercc2tm2(ERCC2)Jhjh
Name: excision repair cross-complementing rodent repair deficiency, complementation group 2; targeted mutation 2, Jan H J Hoeijmakers
MGI ID: MGI:2183949
Synonyms: TTD, Xpdm, XPDR722W, XpdTTD
Gene: Ercc2  Location: Chr7:19382010-19395694 bp, + strand  Genetic Position: Chr7, 9.62 cM
Cutaneous phenotypes of Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh and Ercc2tm2(ERCC2)Jhjh/Ercc2tm2Jmch mice

Show the 3 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:48256
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted
Mutations:    Insertion, Intragenic deletion
Mutation detailsTo 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Ercc2 Mutation:  5 strains or lines available
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
All:  16 reference(s)

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MGI 6.01
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