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Allele : Polr3h<em2Cfe> polymerase (RNA) III (DNA directed) polypeptide H; endonuclease-mediated mutation 2, Carol F Elias

Primary Identifier  MGI:6696392 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Polr3h
Strain of Origin  (C57BL/6J x SJL/J)F2 Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated an A to G change at position 149 (c.149A>G) resulting in an aspartate to glycine substitution at residue 50 (p.D50G). In addition, a TaqalphaI site was introduced. This a pathogenic variant identified in human primary ovarian insufficiency.
  • mutations:
  • Single point mutation
  • synonyms:
  • Polr3h<D50G>,
  • Polr3h<D50G>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories