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| Nomenclature |
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Symbol:
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Polhtm1.1Rak
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Name:
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polymerase (DNA directed), eta (RAD 30 related);
targeted mutation 1.1, Raju Kucherlapati
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MGI ID: |
MGI:3614412 |
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Synonyms: |
Pol eta-del4, XP-V |
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Gene:
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Polh
Location:
Chr17:46172004-46202625 bp, - strand
Genetic Position: Chr17,
22.9 cM, cytoband C
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:105034
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Intragenic deletion |
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Mutation details: Cre mediated recombination resulted in the loss of a 1060-bp fragment containing exon 4 and a PGK-hygro cassette. RT-PCR failed to detect the 712-bp wild-type transcript, but did detect a 497-bp product. Sequencing revealed the predicted splicing of exon 3 to exon 5, resulting in a shift in the ORF in exon 5 that created a stop codon 30 nucleotides downstream. The transcript encodes a truncated protein missing 621 of the 713 amino acids in the normal protein. The J1 ES cell line used to create this allele also carries a homozygous truncation of the Poli gene. (J:105034)
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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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| References |
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Original: |
J:105034
Lin Q et al.,
"Increased susceptibility to UV-induced skin carcinogenesis in polymerase eta-deficient mice."
Cancer Res 2006 Jan 1;66(1):87-94
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All: |
5 reference(s)
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Analysis Tools
