Ercc2^{tm2(ERCC2)Jhjh}
Targeted Allele Detail

Summary

• Symbol: Ercc2^{tm2(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, Xpd^m, XPD^R722W, Xpd^TTD
• Gene: Ercc2 Location: Chr7:19115942-19129619 bp, + strand Genetic Position: Chr7, 9.62 cM
• Alliance: Ercc2^{tm2(ERCC2)Jhjh} page

Cutaneous phenotypes of Ercc2^{tm2(ERCC2)Jhjh}/Ercc2^{tm2(ERCC2)Jhjh} and Ercc2^{tm2(ERCC2)Jhjh}/Ercc2^tm2Jmch mice

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:48256
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Intragenic deletion
• 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)

Disease models

Expression

In Structures Affected by this Mutation:

14 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Ercc2^{tm2(ERCC2)Jhjh}

Find Mice (IMSR)

• 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: 23 strains or lines available

References

• 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: 19 reference(s)