Politm1Pjg
Targeted Allele Detail
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Symbol: |
Politm1Pjg |
Name: |
polymerase (DNA directed), iota; targeted mutation 1, Patricia Gearhart |
MGI ID: |
MGI:6140111 |
Synonyms: |
D126A-E127A allele, Polim |
Gene: |
Poli Location: Chr18:70641751-70663691 bp, - strand Genetic Position: Chr18, 44.48 cM, cytoband E2
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Alliance: |
Politm1Pjg page
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Germline Transmission: |
Earliest citation of germline transmission:
J:236535
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
C57BL/6
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Allele Type: |
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Targeted (Not Specified) |
Mutation: |
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Nucleotide substitutions
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Mutation details: Nucleotide substitutions introduced into exon 4 produced D126A-E127A altered codons, and created a TseI restriction site for PCR genotyping. Expression studies showed that steady-state levels of mutant protein were approximately two-thirds of that observed for wild type. Analyses of wild-type and mutant POLI expressed in E. coli and human cells demonstrated that both enzymes bind to DNA and accumulate spontaneous replication foci proportionately to their expression levels, but the mutant POLI fails to extend DNA primers, i.e., it is catalytically inactive.
(J:236535)
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Original: |
J:236535 Maul RW, et al., DNA polymerase iota functions in the generation of tandem mutations during somatic hypermutation of antibody genes. J Exp Med. 2016 Aug 22;213(9):1675-83 |
All: |
1 reference(s) |
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