Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Ercc2tm1Jmch
Name:	excision repair cross-complementing rodent repair deficiency, complementation group 2; targeted mutation 1, James R Mitchell
MGI ID:	MGI:3693615
Synonyms:	XPDR683W, XPD+XP
Gene:	Ercc2  Location: Chr7:19115942-19129619 bp, + strand  Genetic Position: Chr7, 9.62 cM
Alliance:	Ercc2tm1Jmch page

Germline Transmission:	Earliest citation of germline transmission: J:116054
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129

Allele Type:    Targeted (Humanized sequence) Mutations:    Insertion, Nucleotide substitutions   Mutation details: A targeting vector was designed to insert the R683W substitution into exon 22. RT-PCR confirmed expression of the mutant transcript from ES cells. The neo cassette was not removed from this allele. (J:116054)

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

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:116054 Andressoo JO, et al., Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles. PLoS Biol. 2006 Oct;4(10):e322
All:	1 reference(s)