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Targeted Allele Detail
Symbol: Polhtm1.1Rak
Name: polymerase (DNA directed), eta (RAD 30 related); targeted mutation 1.1, Raju Kucherlapati
MGI ID: MGI:3614412
Synonyms: Pol eta-del4, XP-V
Gene: Polh  Location: Chr17:46172004-46202625 bp, - strand  Genetic Position: Chr17, 22.9 cM, cytoband C
Germline Transmission:  Earliest citation of germline transmission: J:105034
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
Mutation detailsCre 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)
View phenotypes for all genotypes (concatenated display).
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Polh Mutation:  21 strains or lines available
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
All:  6 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.03
The Jackson Laboratory