Ercc3^tm2Jhjh
Targeted Allele Detail

Summary

• Symbol: Ercc3^tm2Jhjh
• Name: excision repair cross-complementing rodent repair deficiency, complementation group 3; targeted mutation 2, Jan H J Hoeijmakers
• MGI ID: MGI:3836429
• Synonyms: Xpb^delta43, Xpb^XPCS
• Gene: Ercc3 Location: Chr18:32373357-32403206 bp, + strand Genetic Position: Chr18, 17.97 cM, cytoband B3
• Alliance: Ercc3^tm2Jhjh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:145759
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: The 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)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Ercc3 Mutation: 31 strains or lines available

References

• 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)