Polh^tm1.1Rak
Targeted Allele Detail

Summary

• Symbol: Polh^tm1.1Rak
• 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: Chr17:46482281-46513567 bp, - strand Genetic Position: Chr17, 22.9 cM, cytoband C
• Alliance: Polh^tm1.1Rak page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:105034
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• 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)

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Polh Mutation: 38 strains or lines available

References

• 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)