Nup107^em1Rajk
Endonuclease-mediated Allele Detail

Summary

• Symbol: Nup107^em1Rajk
• Name: nucleoporin 107; endonuclease-mediated mutation 1, Aleksandar Rajkovic
• MGI ID: MGI:6149753
• Synonyms: Nup107^MT
• Gene: Nup107 Location: Chr10:117586526-117628607 bp, - strand Genetic Position: Chr10, 66.32 cM
• Alliance: Nup107^em1Rajk page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR-targeting introduced a C to T pointmutation and a synonymous varient T to C (for genotyping purposes) into exon 12. This mutation is designed to mimic one identified in human patients with premature ovarian insufficiency. (J:259248)

Expression

In Structures Affected by this Mutation:

1 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 Nup107 Mutation: 46 strains or lines available

References

• Original: J:259248 Ren Y, et al., Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency. Mol Genet Genomic Med. 2018 Mar;6(2):276-281
• All: 1 reference(s)