Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Tumor data | Find Mice (IMSR) | References

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: Chr7:19115942-19129619 bp, + strand  Genetic Position: Chr7, 9.62 cM Alliance: Ercc2tm2(ERCC2)Jhjh page

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 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

14 anatomical structure(s)

List all tumor models in MMHCdb carrying Ercc2tm2(ERCC2)Jhjh

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

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)