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

Symbol:	Ercc1tm2Jhjh
Name:	excision repair cross-complementing rodent repair deficiency, complementation group 1; targeted mutation 2, Jan H J Hoeijmakers
MGI ID:	MGI:2183945
Synonyms:	ERCC1*292, Ercc1d, Ercc1delta, Ercc1m
Gene:	Ercc1  Location: Chr7:19079016-19090449 bp, + strand  Genetic Position: Chr7, 9.6 cM
Alliance:	Ercc1tm2Jhjh page

Germline Transmission:	Earliest citation of germline transmission: J:41161
Parent Cell Line:	E14 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Hypomorph) Mutations:    Insertion, Nucleotide substitutions   Mutation details: A stop codon was introduced at position 292 to shorten the protein by 7 residues, 2 of which are in the essential domain. Expression and sequence analysis showed message to be transcribed and processed properly in homozygous mutant mice. RT-PCR analysis revealed levels of transcript to be approximately 15% of those in wild-type mice. Further analysis showed that transcription of the antisense gene was unaffected by the targeting event. (J:41161)

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

In Mice Carrying this Mutation:	4 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	6 anatomical structure(s)

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 Ercc1 Mutation:	27 strains or lines available

Original:	J:41161 Weeda G, et al., Disruption of mouse ERCC1 results in a novel repair syndrome with growth failure, nuclear abnormalities and senescence. Curr Biol. 1997 Jun 1;7(6):427-39
All:	28 reference(s)