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Allele : Polh<tm1.1Rak> polymerase (DNA directed), eta (RAD 30 related); targeted mutation 1.1, Raju Kucherlapati

Primary Identifier  MGI:3614412 Allele Type  Targeted
Attribute String  Null/knockout Gene  Polh
Transmission  Germline Strain of Origin  129S4/SvJae
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • XP-V,
  • Pol eta-del4,
  • XP-V,
  • Pol eta-del4
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

9 Publication categories

Trail: Allele