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Allele : Polr1a<em3Knwea> polymerase (RNA) I polypeptide A; endonuclease-mediated mutation 3, Kathryn Nicole Weaver

Primary Identifier  MGI:7526145 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Polr1a
Strain of Origin  C57BL/6 Is Recombinase  false
Is Wild Type  false
molecularNote  Proline codon 1635 (CCT) in exon 33 was changed to leucine (CTT) (c.4904C>T, p.P1635L) using an sgRNA (targeting GCCACCAGGGAGAGATGGCGAGG) and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the rare human POLR1A c.4913C>T (p.Pro1638Leu) mutation associated with craniofacial, neural, and cardiac anomalies. This allele also contains an unintended c.4895C>T (p.A1632V) mutation in cis.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Polr1a<A1632V_P1635L>,
  • Polr1a<A1632V_P1635L>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories