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Targeted Allele Detail
Symbol: Ercc3tm2Jhjh
Name: excision repair cross-complementing rodent repair deficiency, complementation group 3; targeted mutation 2, Jan H J Hoeijmakers
MGI ID: MGI:3836429
Synonyms: Xpbdelta43, XpbXPCS
Gene: Ercc3  Location: Chr18:32240300-32270151 bp, + strand  Genetic Position: Chr18, 17.97 cM, cytoband B3
Germline Transmission:  Earliest citation of germline transmission: J:145759
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsThe sequence at the intron exon boundary between intron 14 and exon 15 was modified from TCTCCCCACAG GCA TCC CGA CGC to TCTCCAG ACA GGC ATC TAG GCGC. These nucleotide substitutions alter the splice acceptor site and result in amino acid substitutions plus the formation of a stop codon that prevents the translation of the remaining 43 amino acids. 90% of transcripts utilize the alternative splice acceptor site while 10% utilize the endogenous splice acceptor site and produce full-length transcripts. (J:145759)
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 Ercc3 Mutation:  3 strains or lines available
Original:  J:145759 Andressoo JO, et al., An Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repair. Mol Cell Biol. 2009 Mar;29(5):1276-90
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.0
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