Polr3h^em2Cfe
Endonuclease-mediated Allele Detail

Summary

• Symbol: Polr3h^em2Cfe
• Name: polymerase (RNA) III (DNA directed) polypeptide H; endonuclease-mediated mutation 2, Carol F Elias
• MGI ID: MGI:6696392
• Synonyms: Polr3h^D50G
• Gene: Polr3h Location: Chr15:81799231-81813824 bp, - strand Genetic Position: Chr15, 38.26 cM, cytoband E2
• Alliance: Polr3h^em2Cfe page

Mutation origin

• Strain of Origin: (C57BL/6J x SJL/J)F2

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: 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 Taq^alphaI site was introduced. This a pathogenic variant identified in human primary ovarian insufficiency. (J:290735)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Polr3h Mutation: 19 strains or lines available

References

• Original: J:290735 Franca MM, et al., Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency. J Clin Endocrinol Metab. 2019 Jul 1;104(7):2827-2841
• All: 1 reference(s)