Rnf111^em1Fzh
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rnf111^em1Fzh
• Name: ring finger 111; endonuclease-mediated mutation 1, Feng Zhang
• MGI ID: MGI:7865128
• Synonyms: Rnf111^M
• Gene: Rnf111 Location: Chr9:70332706-70411007 bp, - strand Genetic Position: Chr9, 39.53 cM
• Alliance: Rnf111^em1Fzh page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a missense mutation, a C to A change at position 1450 (c.1450C>A) corresponding to the human RNF111 variant c.1456C>A in a family with premature ovarian insufficiency. (J:361059)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Rnf111 Mutation: 323 strains or lines available

References

• Original: J:361059 Song C, et al., Deleterious variants in RNF111 impair female fertility and induce premature ovarian insufficiency in humans and mice. Sci China Life Sci. 2024 Jul;67(7):1325-1337
• All: 1 reference(s)