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| Nomenclature |
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Symbol:
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Ercc3tm2Jhjh
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Name:
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excision repair cross-complementing rodent repair deficiency, complementation group 3;
targeted mutation 2, Jan H J Hoeijmakers
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MGI ID: |
MGI:3836429 |
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Synonyms: |
Xpbdelta43, XpbXPCS |
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Gene:
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Ercc3
Location:
Chr18:32240300-32270151 bp, + strand
Genetic Position: Chr18,
17.97 cM, cytoband B3
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:145759
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Ercc3 Mutation:
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3 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
